The Value Set is used to describe the problems and medication reasons.
This Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr)
Ocular albinism with late-onset sensorineural deafness
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly with cerebellar hypoplasia type B
Lissencephaly with cerebellar hypoplasia type C
Lissencephaly with cerebellar hypoplasia type D
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly with cerebellar hypoplasia type F
Myelodysplastic neoplasm with increased blasts type 1
Myelodysplastic neoplasm with increased blasts type 2
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Isolated tubular duplication of the esophagus
F12-related hereditary angioedema with normal C1Inh
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Primary hepatic neuroendocrine carcinoma
Scalp defects-postaxial polydactyly syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Porphyria due to ALA dehydratase deficiency
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Autosomal recessive spastic paraplegia type 5A
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 19
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 28
Autosomal dominant spastic paraplegia type 29
Autosomal dominant spastic paraplegia type 31
Female restricted epilepsy with intellectual disability
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive dopa-responsive dystonia
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Rare non-syndromic intellectual disability
X-linked Alport syndrome-diffuse leiomyomatosis
Anomaly of the mitral subvalvular apparatus
Early-onset autosomal dominant Alzheimer disease
Congenital generalized hypertrichosis, Ambras type
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Beta-mercaptolactate cysteine disulfiduria
Chronic diarrhea due to glucoamylase deficiency
Congenital enterocyte heparan sulfate deficiency
Unclassified intestinal pseudoobstruction
Lethal hemolytic anemia-genital anomalies syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Aniridia-intellectual disability syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome
Isolated lissencephaly type 1 without known genetic defects
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Aphalangy-syndactyly-microcephaly syndrome
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Lung agenesis-heart defect-thumb anomalies syndrome
Radial deficiency-tibial hypoplasia syndrome
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome
Neurogenic arthrogryposis multiplex congenita
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Infantile-onset X-linked spinal muscular atrophy
Arthrogryposis multiplex congenita-whistling face syndrome
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Congenital unilateral hypoplasia of depressor anguli oris
Autosomal recessive cerebelloparenchymal disorder type 3
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-ectodermal dysplasia syndrome
Early-onset cerebellar ataxia with retained tendon reflexes
Ataxia-tapetoretinal degeneration syndrome
Benign paroxysmal tonic upgaze of childhood with ataxia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-photosensitivity-short stature syndrome
Spinocerebellar ataxia-dysmorphism syndrome
Lethal ataxia with deafness and optic atrophy
Ataxia-deafness-intellectual disability syndrome
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
TMEM70-related mitochondrial encephalo-cardio-myopathy
Pulmonary atresia with ventricular septal defect
Pulmonary atresia-intact ventricular septum syndrome
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant congenital benign spinal muscular atrophy
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Congenital intrauterine infection-like syndrome
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Blepharonasofacial malformation syndrome
Blepharoptosis-myopia-ectopia lentis syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-arterial hypertension syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachydactyly-preaxial hallux varus syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
Autosomal dominant popliteal pterygium syndrome
Distal limb deficiencies-micrognathia syndrome
Infantile choroidocerebral calcification syndrome
Hereditary butyrylcholinesterase deficiency
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 1
Hyperkeratosis-hyperpigmentation syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
Cardiomyopathy-cataract-hip spine disease syndrome
Mitochondrial DNA-related cardiomyopathy and hearing loss
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Congenital heart defect-round face-developmental delay syndrome
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Cataract-aberrant oral frenula-growth delay syndrome
Cataract-hypertrichosis-intellectual disability syndrome
Neonatal hypoxic and ischemic brain injury
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Overgrowth-macrocephaly-facial dysmorphism syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Spondyloepiphyseal dysplasia with metatarsal shortening
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
X-linked intellectual disability-cerebellar hypoplasia syndrome
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Hypotonia with lactic acidemia and hyperammonemia
Cataract-nephropathy-encephalopathy syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Drug reaction with eosinophilia and systemic symptoms
Encephalopathy due to prosaposin deficiency
Hypomyelination with atrophy of basal ganglia and cerebellum
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Progressive cavitating leukoencephalopathy
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Microphthalmia with brain and digit anomalies
Autosomal recessive spastic paraplegia type 39
Autosomal recessive ataxia due to ubiquinone deficiency
Distal hereditary motor neuropathy type 1
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy, Jerash type
X-linked distal spinal muscular atrophy type 3
Hereditary sensory and autonomic neuropathy type 1B
Hereditary sensory and autonomic neuropathy with deafness and global delay
Mutilating hereditary sensory neuropathy with spastic paraplegia
X-linked hereditary sensory and autonomic neuropathy with deafness
Distal hereditary motor neuropathy type 7
Hydrocephaly-cerebellar agenesis syndrome
Secondary hypoparathyroidism due to impaired parathormon secretion
Primary intraosseous venous malformation
Autosomal dominant slowed nerve conduction velocity
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Stapes ankylosis with broad thumbs and toes
Titin-related limb-girdle muscular dystrophy R10
Self-limited neonatal-infantile epilepsy
Short stature due to primary acid-labile subunit deficiency
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Autosomal dominant macrothrombocytopenia
Bilateral microtia-deafness-cleft palate syndrome
Palmoplantar keratoderma, Nagashima type
Primary angiitis of the central nervous system
Isolated digestive duplication cyst of the tongue
External auditory canal aplasia/hypoplasia
Isolated congenital hypoglossia/aglossia
Rapidly involuting congenital hemangioma
Cerebrofacial arteriovenous metameric syndrome
Cerebrofacial arteriovenous metameric syndrome type 1
Cerebrofacial arteriovenous metameric syndrome type 3
Median cleft of the upper lip and maxilla
Familial calcium pyrophosphate deposition
Chondrodysplasia-difference of sex development syndrome
Autosomal recessive otospondylomegaepiphyseal dysplasia
X-linked skeletal dysplasia-intellectual disability syndrome
Hereditary breast and/or ovarian cancer syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
Carbamoyl-phosphate synthetase 1 deficiency
Coloboma of macula-brachydactyly type B syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Atrial septal defect-atrioventricular conduction defects syndrome
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Arthrogryposis-hyperkeratosis syndrome, lethal form
Lethal congenital contracture syndrome type 1
Corneal dystrophy-perceptive deafness syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Corpus callosum agenesis-neuronopathy syndrome
X-linked complicated corpus callosum dysgenesis
Thin ribs-tubular bones-dysmorphism syndrome
Craniodigital-intellectual disability syndrome
Non-syndromic bilambdoid and sagittal craniosynostosis
Craniofrontonasal dysplasia-Poland anomaly syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Familial isolated dilated cardiomyopathy
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis marmorata telangiectatica congenita
Carnitine palmitoyl transferase 1A deficiency
Fatal infantile cytochrome C oxidase deficiency
Dandy-Walker malformation-postaxial polydactyly syndrome
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Dyssegmental dysplasia, Rolland-Desbuquois type
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Carnitine palmitoyltransferase II deficiency
Hereditary hypophosphatemic rickets with hypercalciuria
Hypotrichosis with juvenile macular degeneration
Retinal degeneration-nanophthalmos-glaucoma syndrome
Congenital or early infantile CACH syndrome
Pterin-4 alpha-carbinolamine dehydratase deficiency
Mesoaxial synostotic syndactyly with phalangeal reduction
Pantothenate kinase-associated neurodegeneration
Combined immunodeficiency with granulomatosis
Oculoauricular syndrome, Schorderet type
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Congenital muscular dystrophy due to LMNA mutation
Hereditary progressive mucinous histiocytosis
Hemophagocytic syndrome associated with an infection
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
Ectodermal dysplasia-skin fragility syndrome
Localized dystrophic epidermolysis bullosa, acral form
Localized dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with pyloric atresia
Carnitine-acylcarnitine translocase deficiency
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Congenital cataract-anterior segment dysgenesis syndrome
Isolated congenital nasal pyriform aperture stenosis
Isolated congenital auditory ossicle malformation
Hereditary hyperferritinemia-cataract syndrome
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Spondyloepiphyseal dysplasia, Reardon type
Spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia, MacDermot type
CNTNAP2-related developmental and epileptic encephalopathy
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Febrile infection-related epilepsy syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Posttransplant acute limbic encephalitis
X-linked intellectual disability, Najm type
X-linked intellectual disability, Nascimento type
X-linked cerebral-cerebellar-coloboma syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Van Esch type
X-linked intellectual disability-craniofacioskeletal syndrome
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Absence of fingerprints-congenital milia syndrome
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
Multiple epiphyseal dysplasia-miniepiphyses syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome
Metaphyseal chondrodysplasia, Kaitila type
Autosomal dominant otospondylomegaepiphyseal dysplasia
FASTKD2-related infantile mitochondrial encephalomyopathy
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Porokeratotic eccrine ostial and dermal duct nevus
Benign infantile focal epilepsy with midline spikes and waves during sleep
Sporadic fetal brain disruption sequence
Dihydropyrimidine dehydrogenase deficiency
Familial idiopathic dilatation of the right atrium
Arterial dissection-lentiginosis syndrome
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Spondyloepimetaphyseal dysplasia, Geneviève type
Spondylometaphyseal dysplasia, Golden type
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Hereditary cryohydrocytosis with reduced stomatin
Hereditary North American Indian childhood cirrhosis
Hyperandrogenism due to cortisone reductase deficiency
Sudden infant death-dysgenesis of the testes syndrome
Methionine adenosyltransferase I/III deficiency
Congenital enteropathy due to enteropeptidase deficiency
Seborrhea-like dermatitis with psoriasiform elements
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein
Familial scaphocephaly syndrome, McGillivray type
Autosomal thrombocytopenia with normal platelets
Generalized basaloid follicular hamartoma syndrome
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Refractory anemia with excess blasts in transformation
Combined immunodeficiency due to CD3gamma deficiency
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Combined immunodeficiency due to CRAC channel dysfunction
Severe combined immunodeficiency due to FOXN1 deficiency
Transient hypogammaglobulinemia of infancy
Recurrent infections due to specific granule deficiency
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to a late component of complement deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Autosomal recessive centronuclear myopathy
Autosomal dominant centronuclear myopathy
Recurrent Neisseria infections due to factor D deficiency
Fatal infantile lactic acidosis with methylmalonic aciduria
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 38
Autosomal recessive spastic paraplegia type 32
Autosomal recessive spastic paraplegia type 35
Metabolic myopathy due to lactate transporter defect
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Blindness-scoliosis-arachnodactyly syndrome
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Autosomal dominant spastic paraplegia type 42
Spondyloepimetaphyseal dysplasia, aggrecan type
Generalized pseudohypoaldosteronism type 1
Myopathy with hexagonally cross-linked tubular arrays
Progressive familial intrahepatic cholestasis
Metaphyseal chondrodysplasia, Schmid type
XY type gonadal dysgenesis-associated anomalies syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Dysmorphism-cleft palate-loose skin syndrome
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
Bleeding disorder in hemophilia A carriers
Bleeding disorder in hemophilia B carriers
Moderate multiminicore disease with hand involvement
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Isolated sternocostoclavicular hyperostosis
Undifferentiated embryonal sarcoma of the liver
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteopetrosis-hypogammaglobulinemia syndrome
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Distal myopathy with anterior tibial onset
X-linked myopathy with postural muscle atrophy
Hereditary myopathy with early respiratory failure
Autosomal dominant non-syndromic intellectual disability
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Primary cutaneous gamma/delta-positive T-cell lymphoma
Primary cutaneous marginal zone B-cell lymphoma
Primary cutaneous follicle center lymphoma
Primary cutaneous diffuse large B-cell lymphoma, leg type
Obesity due to congenital leptin resistance
Obesity due to leptin receptor gene deficiency
Autosomal dominant spondylocostal dysostosis
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Bicervical bicornuate uterus and blind hemivagina
Bicervical bicornuate uterus with patent cervix and vagina
Familial juvenile hypertrophy of the breast
Isolated congenital breast hypoplasia/aplasia
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Hidrotic ectodermal dysplasia, Halal type
X-linked hypohidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Ectodermal dysplasia, trichoodontoonychial type
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Eosinophilic granulomatosis with polyangiitis
Hyper-IgM syndrome with susceptibility to opportunistic infections
Hyper-IgM syndrome without susceptibility to opportunistic infections
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Hermansky-Pudlak syndrome due to AP-3 deficiency
Metaphyseal chondrodysplasia, Rosenberg type
Infantile LAD-like disease due to RAC2 deficiency
Spondyloperipheral dysplasia-short ulna syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Thoracic dysplasia-hydrocephalus syndrome
Dyssegmental dysplasia, Silverman-Handmaker type
Hereditary bullous dystrophy, macular type
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Oculogastrointestinal muscular dystrophy
TRIM32-related limb-girdle muscular dystrophy R8
Ebstein malformation of the tricuspid valve
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Ectodermal dysplasia-sensorineural deafness syndrome
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Cushing syndrome due to bilateral macronodular adrenocortical disease
Familial isolated hypoparathyroidism due to impaired PTH secretion
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Aminopterin/methotrexate embryofetopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Early infantile developmental and epileptic encephalopathy
Early-onset progressive encephalopathy with migrant continuous myoclonus
Self-limited epilepsy with centrotemporal spikes
Epilepsy-microcephaly-skeletal dysplasia syndrome
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Flat face-microstomia-ear anomaly syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Autosomal recessive faciodigitogenital syndrome
Lipodystrophy due to peptidic growth factors deficiency
Bilateral striopallidodentate calcinosis
Corticosteroid-binding globulin deficiency
Hereditary hypercarotenemia and vitamin A deficiency
Familial clubfoot with or without associated lower limb anomalies
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Endocrine-cerebro-osteodysplasia syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Cleft palate-stapes fixation-oligodontia syndrome
Cleft palate-large ears-small head syndrome
Cleft palate-short stature-vertebral anomalies syndrome
Congenital fiber-type disproportion myopathy
Gingival fibromatosis-facial dysmorphism syndrome
Gingival fibromatosis-hypertrichosis syndrome
Gingival fibromatosis-progressive deafness syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Congenital systemic arteriovenous fistula
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Progressive non-infectious anterior vertebral fusion
Splenogonadal fusion-limb defects-micrognathia syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Malignant non-dysgerminomatous germ cell tumor of ovary
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Anoctamin-5-related limb-girdle muscular dystrophy R12
Fukutin-related limb-girdle muscular dystrophy R13
POMT2-related limb-girdle muscular dystrophy R14
POMGNT1-related limb-girdle muscular dystrophy R15
Rippling muscle disease with myasthenia gravis
Autosomal recessive lower motor neuron disease with childhood onset
Subacute inflammatory demyelinating polyneuropathy
Isolated asymptomatic elevation of creatine phosphokinase
Gamma-aminobutyric acid transaminase deficiency
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Prominent glabella-microcephaly-hypogenitalism syndrome
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Glycogen storage disease due to hepatic glycogen synthase deficiency
Non-paraneoplastic sensory ganglionopathy
Polyneuropathy associated with IgM monoclonal gammopathy
Multinodular goiter-cystic kidney-polydactyly syndrome
Autosomal dominant adult-onset proximal spinal muscular atrophy
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
MECP2-related severe neonatal encephalopathy
Autosomal dominant rhegmatogenous retinal detachment
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Cone dystrophy with supernormal rod response
Benign nocturnal alternating hemiplegia of childhood
Sterile multifocal osteomyelitis with periostitis and pustulosis
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Inherited congenital spastic tetraplegia
Lethal polymalformative syndrome, Boissel type
Congenital lethal myopathy, Compton-North type
Dysmorphism-pectus carinatum-joint laxity syndrome
Macrocephaly-intellectual disability-autism syndrome
Congenital temporomandibular joint ankylosis
Hallux varus-preaxial polysyndactyly syndrome
Multifocal infantile hemangioma with extracutenous involvement
Cutaneous mastocytosis-deafness-microtia syndrome
Malignant mixed Müllerian tumor of the ovary
Salivary gland type cancer of the breast
Primitive neuroectodermal tumor of the corpus uteri
Squamous cell carcinoma of the corpus uteri
Undifferentiated carcinoma of the corpus uteri
High-grade neuroendocrine carcinoma of the corpus uteri
Low-grade neuroendocrine tumor of the corpus uteri
Transitional cell carcinoma of the corpus uteri
Malignant germ cell tumor of the corpus uteri
Squamous cell carcinoma of the cervix uteri
High-grade neuroendocrine carcinoma of the cervix uteri
46,XX ovotesticular difference of sex development
Primitive neuroectodermal tumor of the cervix uteri
Adenoid cystic carcinoma of the cervix uteri
Adenoid basal carcinoma of the cervix uteri
Glassy cell carcinoma of the cervix uteri
Malignant germ cell tumor of the cervix uteri
Diaphragmatic defect-limb deficiency-skull defect syndrome
Lissencephaly type 1 due to doublecortin gene mutation
Hirschsprung disease-type D brachydactyly syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-deafness-polydactyly syndrome
Histidinuria-renal tubular defect syndrome
Holoprosencephaly-craniosynostosis syndrome
Holoprosencephaly-caudal dysgenesis syndrome
Holoprosencephaly-postaxial polydactyly syndrome
Congenitally corrected transposition of the great arteries
Isolated congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Classic pantothenate kinase-associated neurodegeneration
Atypical pantothenate kinase-associated neurodegeneration
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, adult neurologic onset
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Pulmonary fungal infections in patients deemed at risk
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 2, attenuated form
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Progressive multifocal leukoencephalopathy
REN-related autosomal dominant tubulointerstitial kidney disease
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Neurodegenerative syndrome due to cerebral folate transport deficiency
Combined immunodeficiency due to DOCK8 deficiency
Progressive polyneuropathy with bilateral striatal necrosis
Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Neuroendocrine cell hyperplasia of infancy
Neonatal acute respiratory distress syndrome
Chronic respiratory distress with surfactant metabolism deficiency
Sensorineural deafness with dilated cardiomyopathy
Inherited isolated arrhythmogenic cardiomyopathy
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Hydrocephaly-tall stature-joint laxity syndrome
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrocephalus-obesity-hypogonadism syndrome
Hydrocephaly-low insertion umbilicus syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Palmoplantar keratoderma-esophageal carcinoma syndrome
Succinic semialdehyde dehydrogenase deficiency
Focal palmoplantar and gingival keratoderma
Palmoplantar keratoderma-spastic paralysis syndrome
Palmoplantar keratoderma-deafness syndrome
Xeroderma pigmentosum-Cockayne syndrome complex
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Bleeding diathesis due to thromboxane synthesis deficiency
Macrothrombocytopenia with mitral valve insufficiency
Attenuated familial adenomatous polyposis
Ankylosing vertebral hyperostosis with tylosis
Hereditary sclerosing poikiloderma, Weary type
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Familial cerebral cavernous malformation
Combined hyperactive dysfunction syndrome of the cranial nerves
Hypertelorism-hypospadias-polysyndactyly syndrome
Combined immunodeficiency with facio-oculo-skeletal anomalies
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Hypertelorism-microtia-facial clefting syndrome
Multiple pterygium-malignant hyperthermia syndrome
Maternal hyperthermia-induced birth defects
Cervical hypertrichosis-peripheral neuropathy syndrome
Erosive pustular dermatosis of the scalp
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Ulna hypoplasia-intellectual disability syndrome
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome
Sporadic infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Foveal hypoplasia-presenile cataract syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Genetic transient congenital hypothyroidism
Hypotrichosis-intellectual disability, Lopes type
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Ichthyosis-oral and digital anomalies syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Multiple system atrophy, cerebellar type
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Autosomal recessive optic atrophy, OPA7 type
Severe combined immunodeficiency due to CORO1A deficiency
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Autosomal dominant striatal neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Dysmorphism-short stature-deafness-difference of sex development syndrome
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, neonatal form
Virus-associated trichodysplasia spinulosa
Spondylo-megaepiphyseal-metaphyseal dysplasia
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency
Congenital generalized lipodystrophy type 4
Familial articular hypermobility syndrome
Classical-like Ehlers-Danlos syndrome type 1
Ehlers-Danlos/osteogenesis imperfecta syndrome
Absence deformity of leg-cataract syndrome
High-grade dysplasia in patients with Barrett esophagus
Autosomal recessive spondylocostal dysostosis
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Combined immunodeficiency due to partial RAG1 deficiency
Transient familial neonatal hyperbilirubinemia
Common variable immunodeficiency without known genetic defect
Beta-thalassemia-X-linked thrombocytopenia syndrome
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Alpha-thalassemia-myelodysplastic syndrome
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Paraparetic variant of Guillain-Barré syndrome
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Autosomal dominant generalized dystrophic epidermolysis bullosa
Congenital erosive and vesicular dermatosis
Adrenocortical carcinoma with pure aldosterone hypersecretion
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Isolated growth hormone deficiency type III
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Osteopenia-intellectual disability-sparse hair syndrome
Epidermolysis bullosa simplex with anodontia/hypodontia
Kallmann syndrome-heart disease syndrome
Diffuse palmoplantar keratoderma, Bothnian type
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Keratosis follicularis spinulosa decalvans
Familial partial lipodystrophy, Dunnigan type
Muscular pseudohypertrophy-hypothyroidism syndrome
Glycogen storage disease due to lactate dehydrogenase deficiency
Larsen-like osseous dysplasia-short stature syndrome
Laryngeal abductor paralysis-intellectual disability syndrome
Early-onset parkinsonism-intellectual disability syndrome
Severe X-linked mitochondrial encephalomyopathy
Combined immunodeficiency due to CD27 deficiency
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Leukoencephalopathy-palmoplantar keratoderma syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Ileal pouch anal anastomosis related faecal incontinence
Congenital primary megaureter, obstructed form
Congenital primary megaureter, refluxing form
Congenital primary megaureter, nonrefluxing and unobstructed form
Isolated congenital hypogonadotropic hypogonadism
Isolated thyrotropin-releasing hormone deficiency
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Congenitally short costocoracoid ligament
Peripheral motor neuropathy-dysautonomia syndrome
Classic progressive supranuclear palsy syndrome
Progressive supranuclear palsy-predominant parkinsonism syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Thickened earlobes-conductive deafness syndrome
Nijmegen breakage syndrome-like disorder
Hypergonadotropic hypogonadism-cataract syndrome
Dislocation of the hip-dysmorphism syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Macrosomia-microphthalmia-cleft palate syndrome
Dimethylglycine dehydrogenase deficiency
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Isolated split hand-split foot malformation
De novo thrombotic microangiopathy after kidney transplantation
Biliary atresia with splenic malformation syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Congenital pulmonary airway malformation
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Sporadic adult-onset ataxia of unknown etiology
Hyperphosphatasia-intellectual disability syndrome
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal dominant secondary polycythemia
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Inflammatory myopathy with abundant macrophages
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Juvenile cataract-microcornea-renal glucosuria syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Autosomal recessive ataxia due to PEX10 deficiency
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
NLRP12-associated hereditary periodic fever syndrome
Megalocornea-intellectual disability syndrome
Autosomal recessive hypohidrotic ectodermal dysplasia
Lower limb malformation-hypospadias syndrome
Upper limb defect-eye and ear abnormalities syndrome
Müllerian duct anomalies-limb anomalies syndrome
Upper limb mesomelic dysplasia, type Fryns
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Multiple benign circumferential skin creases on limbs
Corpus callosum agenesis-abnormal genitalia syndrome
Autosomal dominant optic atrophy and peripheral neuropathy
Polymicrogyria with optic nerve hypoplasia
Paternal uniparental disomy of chromosome 1 syndrome
Maternal uniparental disomy of chromosome 1 syndrome
SATB2-associated syndrome due to a chromosomal rearrangement
Microbrachycephaly-ptosis-cleft lip syndrome
Autosomal recessive primary microcephaly
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Autosomal dominant spastic ataxia type 1
Benign concentric annular macular dystrophy
Parietal foramina with clavicular hypoplasia
Pigmented paravenous retinochoroidal atrophy
Microcephaly-albinism-digital anomalies syndrome
Infantile onset panniculitis with uveitis and systemic granulomatosis
Unexplained long-lasting fever/inflammatory syndrome
Sickle cell-beta-thalassemia disease syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Localized junctional epidermolysis bullosa
Microcephaly-cardiac defect-lung malsegmentation syndrome
Autosomal recessive chorioretinopathy-microcephaly syndrome
Medulloblastoma with extensive nodularity
Microcephaly-seizures-intellectual disability-heart disease syndrome
Pineal parenchymal tumor of intermediate differentiation
Desmoplastic infantile astrocytoma/ganglioglioma
Yolk sac tumor of central nervous system
Choriocarcinoma of the central nervous system
Mixed germ cell tumor of central nervous system
Primary melanoma of the central nervous system
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Malignant peripheral nerve sheath tumor with perineurial differentiation
Microcephaly-cervical spine fusion anomalies syndrome
Constitutional mismatch repair deficiency syndrome
Melanoma and neural system tumor syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-microcornea syndrome, Seemanova type
Microcephaly-deafness-intellectual disability syndrome
Microcornea-glaucoma-absent frontal sinuses syndrome
Microgastria-limb reduction defect syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Plectin-related limb-girdle muscular dystrophy R17
Temple syndrome due to paternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Temple syndrome due to paternal 14q32.2 hypomethylation
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Microphthalmia-microtia-fetal akinesia syndrome
Genetic hyperferritinemia without iron overload
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial DNA depletion syndrome, myopathic form
Autosomal recessive progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Oculoauriculovertebral spectrum with radial defects
Renal tubulopathy-encephalopathy-liver failure syndrome
Isolated cytochrome C oxidase deficiency
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Microspherophakia-metaphyseal dysplasia syndrome
Adult-onset autosomal recessive sideroblastic anemia
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Microphthalmia with linear skin defects syndrome
Early-onset generalized limb-onset dystonia
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Pyramidal molars-abnormal upper lip syndrome
Chronic Epstein-Barr virus infection syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Spastic ataxia-corneal dystrophy syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Laminin subunit alpha 2-related congenital muscular dystrophy
Myalgia-eosinophilia syndrome associated with tryptophan
Myoclonus-cerebellar ataxia-deafness syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Self-limited childhood occipital epilepsy
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial myopathy and sideroblastic anemia
X-linked myopathy with excessive autophagy
Methylmalonic acidemia with homocystinuria
Autosomal recessive sideroblastic anemia
Distal 7q11.23 microduplication syndrome
FOXG1 syndrome due to 14q12 microdeletion
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Paternal 20q13.2q13.3 microdeletion syndrome
Distal 22q11.2 microduplication syndrome
Atypical Norrie disease due to Xp11.3 microdeletion
Maternal uniparental disomy of chromosome X syndrome
Paternal uniparental disomy of chromosome X syndrome
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to a ZEB2 point mutation
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Kleefstra syndrome due to a point mutation
Microcephalic primordial dwarfism, Montreal type
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Well-differentiated thymic neuroendocrine carcinoma
Moderately-differentiated thymic neuroendocrine carcinoma
Poorly differentiated thymic neuroendocrine carcinoma
Postcardiotomy right ventricular failure
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Congenital hyperinsulinism due to HNF4A deficiency
Spondyloepimetaphyseal dysplasia, Maroteaux type
Acute necrotizing encephalopathy of childhood
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism type II
Fibular aplasia-complex brachydactyly syndrome
Microcephalic primordial dwarfism, Toriello type
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hereditary pulmonary alveolar proteinosis
Drug or radiation exposure-related interstitial lung disease
Adult familial nephronophthisis-spastic quadriparesia syndrome
Nephropathy-deafness-hyperparathyroidism syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome
Calpain-3-related limb-girdle muscular dystrophy R1
Cyprus facial-neuromusculoskeletal syndrome
Multiple acyl-CoA dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Dysferlin-related limb-girdle muscular dystrophy R2
Hypomyelination neuropathy-arthrogryposis syndrome
RAS-associated autoimmune leukoproliferative disease
Thiamine-responsive maple syrup urine disease
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Hereditary thrombocytopenia with normal platelets
Isolated focal cortical dysplasia type I
Isolated focal cortical dysplasia type Ia
Isolated focal cortical dysplasia type Ib
Isolated focal cortical dysplasia type Ic
Isolated focal cortical dysplasia type II
Neutropenia-monocytopenia-deafness syndrome
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Isolated total cerebellar vermis agenesis
Isolated partial cerebellar vermis agenesis
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Isolated unilateral hemispheric cerebellar hypoplasia
Isolated bilateral hemispheric cerebellar hypoplasia
Congenital non-communicating hydrocephalus
Arthrogryposis-renal dysfunction-cholestasis syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Vitamin B12-unresponsive methylmalonic acidemia
Noonan syndrome-like disorder with loose anagen hair
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocerebral hypopigmentation syndrome, Cross type
Congenital muscular dystrophy, Fukuyama type
Oculocerebral hypopigmentation syndrome, Preus type
Odonto-onycho dysplasia-alopecia syndrome
Odontomatosis-aortae esophagus stenosis syndrome
Blepharophimosis-intellectual disability syndrome, Ohdo type
Olivopontocerebellar atrophy-deafness syndrome
Lethal omphalocele-cleft palate syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Horizontal gaze palsy with progressive scoliosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Dianzani autoimmune lymphoproliferative disease
Idiopathic pulmonary arterial hypertension
Heritable pulmonary arterial hypertension
Behavioral variant of frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Imperforate oropharynx-costovertebral anomalies syndrome
Hemolytic disease of the newborn with Kell alloimmunization
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Bile acid CoA ligase deficiency and defective amidation
Malignant epithelial tumor of salivary glands
Benign epithelial tumor of salivary glands
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Non-syndromic male infertility due to sperm motility disorder
Hemihyperplasia-multiple lipomatosis syndrome
Lower motor neuron syndrome with late-adult onset
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Non-insulinoma pancreatogenous hypoglycemia syndrome
Sporadic pheochromocytoma/secreting paraganglioma
Symptomatic form of Coffin-Lowry syndrome in female carriers
Severe combined immunodeficiency due to adenosine deaminase deficiency
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Autosomal recessive distal osteolysis syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Osteopathia striata-cranial sclerosis syndrome
Osteopetrosis with renal tubular acidosis
Osteoporosis-oculocutaneous hypopigmentation syndrome
Fowler urethral sphincter dysfunction syndrome
Pachygyria-intellectual disability-epilepsy syndrome
Toxic maculopathy due to antimalarial drugs
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Vitamin B12-responsive methylmalonic acidemia
Severe combined immunodeficiency due to LCK deficiency
Methylmalonic aciduria due to transcobalamin receptor defect
X-linked sideroblastic anemia and spinocerebellar ataxia
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
PLIN1-related familial partial lipodystrophy
Autosomal semi-dominant severe lipodystrophic laminopathy
Erythropoietic uroporphyria associated with myeloid malignancy
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Familial omphalocele syndrome with facial dysmorphism
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fatal infantile hypertonic myofibrillar myopathy
Chondrodysplasia with joint dislocations, gPAPP type
Hereditary sensorimotor neuropathy with hyperelastic skin
Familial progressive hyper- and hypopigmentation
Multiple congenital anomalies-hypotonia-seizures syndrome
Megaconial congenital muscular dystrophy
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Severe intellectual disability and progressive spastic paraplegia
Pseudoxanthomatous diffuse cutaneous mastocytosis
Intralobar congenital pulmonary sequestration
Extralobar congenital pulmonary sequestration
Communicating congenital bronchopulmonary-foregut malformation
Congenital pulmonary airway malformation type 0
Congenital pulmonary airway malformation type 1
Congenital pulmonary airway malformation type 2
Congenital pulmonary airway malformation type 3
Congenital pulmonary airway malformation type 4
Familial recurrent peripheral facial palsy
Congenital reticular ichthyosiform erythroderma
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic paraplegia-facial-cutaneous lesions syndrome
Spastic paraplegia-nephritis-deafness syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome
Autosomal recessive spastic paraplegia type 11
Paraplegia-intellectual disability-hyperkeratosis syndrome
Spastic paraplegia-precocious puberty syndrome
Rhizomelic dysplasia, Patterson-Lowry type
Short tarsus-absence of lower eyelashes syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Renal caliceal diverticuli-deafness syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Adult-onset autosomal recessive cerebellar ataxia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Reversible cerebral vasoconstriction syndrome
Well-differentiated fetal adenocarcinoma of the lung
Glycerol kinase deficiency, juvenile form
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Alopecia-intellectual disability syndrome
Short stature-wormian bones-dextrocardia syndrome
Short stature-webbed neck-heart disease syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Short stature-valvular heart disease-characteristic facies syndrome
Phosphoenolpyruvate carboxykinase deficiency
Cutaneous photosensitivity-lethal colitis syndrome
Piebald trait-neurologic defects syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Pili torti-developmental delay-neurological abnormalities syndrome
Hypocalcemic vitamin D-dependent rickets
Autosomal recessive hypophosphatemic rickets
Pilodental dysplasia-refractive errors syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Infective dermatitis associated with HTLV-1
Primary non-gestational choriocarcinoma of ovary
Non-central nervous system-localized embryonal carcinoma
Early-onset myopathy with fatal cardiomyopathy
Intellectual disability-alacrima-achalasia syndrome
Congenital cataract microcornea with corneal opacity
Combined malonic and methylmalonic acidemia
BAP1-related tumor predisposition syndrome
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Dysmorphism-conductive hearing loss-heart defect syndrome
Mitochondrial membrane protein-associated neurodegeneration
Hereditary arterial and articular multiple calcification syndrome
Epstein-Barr virus-positive diffuse large B-cell lymphoma
X-linked intellectual disability-plagiocephaly syndrome
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Hypermethioninemia due to glycine N-methyltransferase deficiency
Brachyolmia-amelogenesis imperfecta syndrome
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Idiopathic chronic eosinophilic pneumonia
Hereditary pheochromocytoma-paraganglioma
Postaxial polydactyly-dental and vertebral anomalies syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
Digital extensor muscle aplasia-polyneuropathy
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Congenital herpes simplex virus infection
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Infantile-onset ascending hereditary spastic paralysis
Acute generalized exanthematous pustulosis
Epilepsy of infancy with migrating focal seizures
Chronic inflammatory demyelinating polyneuropathy
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Polysyndactyly-cardiac malformation syndrome
Congenital hereditary endothelial dystrophy type II
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Verloes type
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Congenital dyserythropoietic anemia type IV
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Lethal occipital encephalocele-skeletal dysplasia syndrome
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Microcephaly-capillary malformation syndrome
Neonatal inflammatory skin and bowel disease
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome
Isolated absence of upper arm and forearm with hand present
Isolated absence of thigh and lower leg with foot present
Isolated absence of both forearm and hand
Isolated absence of both lower leg and foot
Familial isolated clinodactyly of fingers
Congenital pseudoarthrosis of the fibula
Congenital pseudoarthrosis of the radius
Isolated congenital radial head dislocation
Absent thumb-short stature-immunodeficiency syndrome
Adducted thumbs-arthrogryposis syndrome, Christian type
Congenital elbow dislocation, unilateral
Musculocontractural Ehlers-Danlos syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Progeria-short stature-pigmented nevi syndrome
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
46,XX difference of sex development-anorectal anomalies syndrome
46,XX difference of sex development-skeletal anomalies syndrome
Pseudoleprechaunism syndrome, Patterson type
Chronic intestinal pseudoobstruction syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Difference of sex development-intellectual disability syndrome
Pterygium colli-intellectual disability-digital anomalies syndrome
Autosomal recessive multiple pterygium syndrome
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Ptosis-strabismus-ectopic pupils syndrome
Familial peripheral male-limited precocious puberty
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Severe congenital hypochromic anemia with ringed sideroblasts
Congenital cataract-hearing loss-severe developmental delay syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Persistent polyclonal B-cell lymphocytosis
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
PLCG2-associated antibody deficiency and immune dysregulation
Progeroid and marfanoid aspect-lipodystrophy syndrome
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Autosomal recessive infantile hypercalcemia
Combined pulmonary fibrosis-emphysema syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Pyridoxine-dependent-developmental and epileptic encephalopathy
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Diffuse large B-cell lymphoma of the central nervous system
T-cell/histiocyte rich large B cell lymphoma
Primary cutaneous anaplastic large cell lymphoma
Splenic diffuse red pulp small B-cell lymphoma
Diffuse large B-cell lymphoma with chronic inflammation
ALK-positive anaplastic large cell lymphoma
ALK-negative anaplastic large cell lymphoma
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Absent radius-anogenital anomalies syndrome
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Inherited epidermodysplasia verruciformis
External auditory canal atresia-vertical talus-hypertelorism syndrome
Radial ray hypoplasia-choanal atresia syndrome
Growth delay-hydrocephaly-lung hypoplasia syndrome
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Intellectual disability-balding-patella luxation-acromicria syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Blepharophimosis-intellectual disability syndrome, SBBYS type
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability, Snyder type
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Autosomal recessive spastic paraplegia type 48
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Isolated hereditary congenital facial paralysis
Congenital hereditary facial paralysis-variable hearing loss syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Hereditary sodium channelopathy-related small fibers neuropathy
X-linked complicated spastic paraplegia type 1
Complication after organ transplantation
Familial normophosphatemic tumoral calcinosis
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Delayed encephalopathy due to carbon monoxide poisoning
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Intellectual disability-short stature-hypertelorism syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
Curly hair-acral keratoderma-caries syndrome
Severe X-linked intellectual disability, Gustavson type
Intellectual disability, Buenos-Aires type
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Intellectual disability-polydactyly-uncombable hair syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Erythrocyte galactose epimerase deficiency
Generalized galactose epimerase deficiency
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Glycogen storage disease due to acid maltase deficiency, infantile onset
Autosomal dominant vitreoretinochoroidopathy
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Pancreatic triacylglycerol lipase deficiency
Combined pancreatic lipase-colipase deficiency
Primary hypomagnesemia with secondary hypocalcemia
Hereditary arginine vasopressin deficiency
Atypical Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, adult form
Free sialic acid storage disease, infantile form
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Autosomal dominant epidermolytic ichthyosis
Alpha-N-acetylgalactosaminidase deficiency
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Infantile cerebellar-retinal degeneration
Developmental and speech delay due to SOX5 deficiency
Epstein-Barr virus-associated gastric carcinoma
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Idiopathic linear interstitial keratitis
Gastric adenocarcinoma and proximal polyposis of the stomach
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Hereditary sensory and autonomic neuropathy type 6
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Spigelian hernia-cryptorchidism syndrome
Young adult-onset distal hereditary motor neuropathy
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Autosomal recessive spastic ataxia with leukoencephalopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Non-progressive cerebellar ataxia with intellectual disability
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Combined immunodeficiency due to STK4 deficiency
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Atypical dentin dysplasia due to SMOC2 deficiency
Short stature due to partial GHR deficiency
Autosomal dominant proximal renal tubular acidosis
X-linked non progressive cerebellar ataxia
Cataract-congenital heart disease-neural tube defect syndrome
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Progressive symmetric erythrokeratodermia
Omphalocele syndrome, Shprintzen-Goldberg type
Infantile convulsions and choreoathetosis
Severe combined immunodeficiency due to DNA-PKcs deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to STIM1 deficiency
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
X-linked spasticity-intellectual disability-epilepsy syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome
Steatocystoma multiplex-natal teeth syndrome
Holoprosencephaly-radial heart renal anomalies syndrome
Subaortic stenosis-short stature syndrome
Congenital myopathy with internal nuclei and atypical cores
Diencephalic-mesencephalic junction dysplasia
Chondroectodermal dysplasia with night blindness
Autosomal recessive spastic paraplegia type 53
Multilocular cystic renal neoplasm of low malignant potential
MiT family translocation renal cell carcinoma
Mucinous tubular and spindle cell renal carcinoma
Autosomal recessive myogenic arthrogryposis multiplex congenita
Carney complex-trismus-pseudocamptodactyly syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Acute myeloid leukemia with CEBPA somatic mutations
Familial papillary or follicular thyroid carcinoma
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Steroid dehydrogenase deficiency-dental anomalies syndrome
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
X-linked mendelian susceptibility to mycobacterial diseases
Constitutional megaloblastic anemia with severe neurologic disease
Microcephalic primordial dwarfism, Dauber type
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Arthrogryposis-ectodermal dysplasia syndrome
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Autosomal dominant spastic paraplegia type 41
MT-ATP6-related mitochondrial spastic paraplegia
Autosomal dominant spastic paraplegia type 36
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 54
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 44
Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 56
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Isolated succinate-CoQ reductase deficiency
Deaf blind hypopigmentation syndrome, Yemenite type
Conductive deafness-malformed external ear syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-enamel hypoplasia-nail defects syndrome
Phosphoribosylpyrophosphate synthetase superactivity
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Deafness-ear malformation-facial palsy syndrome
Cochleosaccular degeneration-cataract syndrome
Progressive deafness with stapes fixation
Conductive deafness-ptosis-skeletal anomalies syndrome
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
PRDM8-related progressive myoclonus epilepsy
T-cell immunodeficiency with epidermodysplasia verruciformis
Multiple paragangliomas associated with polycythemia
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Sinoatrial node dysfunction and deafness
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Hereditary inclusion body myopathy type 4
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Autosomal recessive axonal neuropathy with neuromyotonia
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Combined oxidative phosphorylation defect type 11
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Symphalangism with multiple anomalies of hands and feet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Proteasome-associated autoinflammatory syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
46,XY ovotesticular difference of sex development
Leydig cell hypoplasia due to LHB deficiency
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Syndactyly-polydactyly-ear lobe syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome
Catecholaminergic polymorphic ventricular tachycardia
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Tall stature-long halluces-multiple extra-epiphyses syndrome
Developmental delay with autism spectrum disorder and gait instability
Autosomal dominant neovascular inflammatory vitreoretinopathy
Microcephalic primordial dwarfism due to ZNF335 deficiency
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Congenital chronic diarrhea with protein-losing enteropathy
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Beta-propeller protein-associated neurodegeneration
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Fatty acid hydroxylase-associated neurodegeneration
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Thrombocythemia with distal limb defects
Autosomal recessive frontotemporal pachygyria
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Autosomal dominant focal dystonia, DYT25 type
Acute megakaryoblastic leukemia in children without Down syndrome
Spastic paraplegia-Paget disease of bone syndrome
Adult-onset distal myopathy due to VCP mutation
Tumor necrosis factor receptor 1 associated periodic syndrome
Mosaic genome-wide paternal uniparental disomy syndrome
Non-hypoproteinemic hypertrophic gastropathy
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Generalized juvenile polyposis/juvenile polyposis coli
Classic neuroendocrine tumor of appendix
Hemoglobin Lepore-beta-thalassemia syndrome
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Tetraamelia-multiple malformations syndrome
Fallot complex-intellectual disability-growth delay syndrome
Inverted duplicated chromosome 15 syndrome
Metaphyseal chondrodysplasia, Jansen type
Autosomal non-syndromic agammaglobulinemia
Severe congenital neutropenia due to G6PC3 deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Susceptibility to infection due to TYK2 deficiency
Congenital amegakaryocytic thrombocytopenia
Classic heparin-induced thrombocytopenia
Absent tibia-polydactyly-arachnoid cyst syndrome
Jessner lymphocytic infiltration of the skin
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Tracheobronchopathia osteochondroplastica
Tremor-nystagmus-duodenal ulcer syndrome
Trichodermodysplasia-dental alterations syndrome
Gamma-glutamyl transpeptidase deficiency
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trigonocephaly-bifid nose-acral anomalies syndrome
Trigonocephaly-short stature-developmental delay syndrome
Isolated anterior cervical hypertrichosis
Umbilical cord ulceration-intestinal atresia syndrome
Double uterus-hemivagina-renal agenesis syndrome
Autosomal dominant tubulointerstitial kidney disease
Hyperimmunoglobulinemia D with periodic fever
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Telethonin-related limb-girdle muscular dystrophy R7
FKRP-related limb-girdle muscular dystrophy R9
DNAJB6-related limb-girdle muscular dystrophy D1
Congenital muscular dystrophy with integrin alpha-7 deficiency
Autosomal dominant primary hypomagnesemia with hypocalciuria
Immunodeficiency by defective expression of MHC class I
Severe disseminated cytomegalovirus infection in immunocompetent patients
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Non-syndromic bicoronal craniosynostosis
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Congenital sucrase-isomaltase deficiency
X-linked dominant chondrodysplasia punctata
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Spectrin-associated autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
DNA2-related mitochondrial DNA deletion syndrome
ISPD-related limb-girdle muscular dystrophy R20
Autism spectrum disorder due to AUTS2 deficiency
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Progressive myoclonic epilepsy with dystonia
Autosomal recessive cerebellar ataxia with late-onset spasticity
Brain dopamine-serotonin vesicular transport disease
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Hereditary benign intraepithelial dyskeratosis
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
X-linked Charcot-Marie-Tooth disease type 6
Cobblestone lissencephaly without muscular or ocular involvement
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Progressive retinal dystrophy due to retinol transport defect
Minimal pigment oculocutaneous albinism type 1
Temperature-sensitive oculocutaneous albinism type 1
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Epileptic encephalopathy with global cerebral demyelination
Familial primary localized cutaneous amyloidosis
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency, benign type
Congenital myasthenic syndromes with glycosylation defect
Congenital retinal arteriovenous communication
Idiopathic macular telangiectasia type 1
Idiopathic macular telangiectasia type 3
ANK3-related intellectual disability-sleep disturbance syndrome
Hemolytic uremic syndrome with DGKE deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
L-Arginine:glycine amidinotransferase deficiency
Autosomal recessive cutis laxa type 2, classic type
Aromatic L-amino acid decarboxylase deficiency
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Primary non-essential cutis verticis gyrata
Combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to IL21R deficiency
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Combined deficiency of factor V and factor VIII
High myopia-sensorineural deafness syndrome
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Multiple mitochondrial dysfunctions syndrome type 3
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Non-seminomatous germ cell tumor of testis
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Intellectual disability-strabismus syndrome
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Acute encephalopathy with biphasic seizures and late reduced diffusion
CTCF-related neurodevelopmental disorder
LMNA-related cardiocutaneous progeria syndrome
GMPPB-related limb-girdle muscular dystrophy R19
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
X-linked parkinsonism-spasticity syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
COL4A1/2-related familial vascular leukoencephalopathy
Hereditary sensory and autonomic neuropathy type 1
Genetic epilepsy with febrile seizure plus
Koolen-De Vries syndrome due to a point mutation
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Glycogen storage disease due to glucose-6-phosphatase deficiency
X-linked intellectual disability due to GRIA3 mutations
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Severe early-childhood-onset retinal dystrophy
Infantile epileptic-dyskinetic encephalopathy
Hypocomplementemic urticarial vasculitis
Intellectual disability-brachydactyly-Pierre Robin syndrome
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
TRAPPC11-related limb-girdle muscular dystrophy R18
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
2p21 microdeletion syndrome without cystinuria
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Combined oxidative phosphorylation defect type 17
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Proximal 16p11.2 microduplication syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Peripheral primitive neuroectodermal tumor
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Glycogen storage disease due to muscle phosphofructokinase deficiency
Congenital muscular dystrophy with hyperlaxity
Hypotonia-speech impairment-severe cognitive delay syndrome
Multicentric osteolysis-nodulosis-arthropathy spectrum
Anti-glomerular basement membrane disease
Guanidinoacetate methyltransferase deficiency
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Fatal post-viral neurodegenerative disorder
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
SURF1-related Charcot-Marie-Tooth disease type 4
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Familial episodic pain syndrome with predominantly upper body involvement
Familial episodic pain syndrome with predominantly lower limb involvement
Hereditary sensory and autonomic neuropathy type 7
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Off-periods in Parkinson disease not responding to oral treatment
Homozygous familial hypercholesterolemia
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
46,XX testicular difference of sex development
Homocystinuria due to cystathionine beta-synthase deficiency
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Multiple acyl-CoA dehydrogenase deficiency, mild type
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Silver-Russell syndrome due to a point mutation
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Macrocephaly-developmental delay syndrome
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
COASY protein-associated neurodegeneration
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Combined immunodeficiency due to IKBKB deficiency
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
TCR-alpha-beta-positive T-cell deficiency
Combined immunodeficiency due to MALT1 deficiency
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Hereditary cryohydrocytosis with normal stomatin
Alpha-B crystallin-related late-onset myopathy
KLHL9-related early-onset distal myopathy
HNRNPA1-related adult-onset distal myopathy
Secondary non-traumatic avascular necrosis
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation
Pancytopenia-developmental delay syndrome
Proximal myopathy with extrapyramidal signs
Optic atrophy-intellectual disability syndrome
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 67
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 71
Childhood-onset spasticity with hyperglycinemia
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Huntington disease-like syndrome due to C9ORF72 expansions
Familial median cleft of the upper and lower lips
Moyamoya disease with early-onset achalasia
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Acute myeloid leukemia with t(6;9)(p23;q34)
Acute myeloid leukemia with t(9;11)(p22;q23)
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Acute myeloid leukemia with NPM1 somatic mutations
Autosomal recessive distal renal tubular acidosis
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Multisystemic smooth muscle dysfunction syndrome
Female infertility due to zona pellucida defect
Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Clear cell papillary renal cell carcinoma
Acquired cystic disease-associated renal cell carcinoma
Spinal muscular atrophy with respiratory distress type 2
Familial atypical multiple mole melanoma syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Mild phosphoribosylpyrophosphate synthetase superactivity
Severe phosphoribosylpyrophosphate synthetase superactivity
Proton-pump inhibitor-responsive esophageal eosinophilia
Pulmonary non-tuberculous mycobacterial infection
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
PRKAR1B-related neurodegenerative dementia with intermediate filaments
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Neonatal severe primary hyperparathyroidism
Carcinoma of esophagus, salivary gland type
Medium chain acyl-CoA dehydrogenase deficiency
Secondary pulmonary alveolar proteinosis
Glycogen storage disease due to acid maltase deficiency, late-onset
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Adult-onset cervical dystonia, DYT23 type
Bleeding disorder due to CalDAG-GEFI deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Woolly hair-palmoplantar keratoderma syndrome
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Idiopathic/heritable pulmonary arterial hypertension
Hereditary clear cell renal cell carcinoma
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Severe congenital neutropenia due to JAGN1 deficiency
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Squamous cell carcinoma of the small intestine
Familial hyperthyroidism due to mutations in TSH receptor
Squamous cell carcinoma of the anal canal
Mucinous cystadenocarcinoma of the pancreas
Intraductal papillary mucinous carcinoma of pancreas
Pancreatic solid pseudopapillary neoplasm
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Congenital myopathy with myasthenic-like onset
TOR1AIP1-related limb-girdle muscular dystrophy
Adenocarcinoma of the liver and intrahepatic biliary tract
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Squamous cell carcinoma of liver and intrahepatic biliary tract
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
STING-associated vasculopathy with onset in infancy
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Combined immunodeficiency due to OX40 deficiency
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Acute tricyclic antidepressant poisoning
Acute poisoning by drugs with membrane-stabilizing effect
X-linked scapuloperoneal muscular dystrophy
Autosomal recessive spastic paraplegia type 57
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Normosmic congenital hypogonadotropic hypogonadism
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
CIDEC-related familial partial lipodystrophy
LIPE-related familial partial lipodystrophy
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
Chronic atrial and intestinal dysrhythmia syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Contractures-developmental delay-Pierre Robin syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Thrombomodulin-related bleeding disorder
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Microcephalic primordial dwarfism-insulin resistance syndrome
Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Combined immunodeficiency-multiple intestinal atresia
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Ketoacidosis due to monocarboxylate transporter-1 deficiency
RARS-related autosomal recessive hypomyelinating leukodystrophy
PCNA-related progressive neurodegenerative photosensitivity syndrome
STAT3-related early-onset multisystem autoimmune disease
Severe autosomal recessive macrothrombocytopenia
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Progressive encephalomyelitis with rigidity and myoclonus
Zinc-responsive necrolytic acral erythema
Non-recovering obstetric brachial plexus lesion
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
KCNQ2-related developmental and epileptic encephalopathy
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Interstitial lung disease due to SP-C deficiency
Interstitial lung disease due to ABCA3 deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Extensive peripapillary myelinated nerve fibers
Combined hamartoma of the retina and retinal pigment epithelium
Early-onset posterior subcapsular cataract
Non-specific early-onset epileptic encephalopathy
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Hypothalamic adipsic hypernatraemia syndrome
Lymphoplasmacytic lymphoma without IgM production
Postural orthostatic tachycardia syndrome due to NET deficiency
DNAJB2-related Charcot-Marie-Tooth disease type 2
Mandibulofacial dysostosis with alopecia
Combined oxidative phosphorylation defect type 23
46,XX ovarian dysgenesis-short stature syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Autoimmune interstitial lung disease-arthritis syndrome
Autosomal dominant spastic paraplegia type 73
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Combined oxidative phosphorylation defect type 24
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Combined immunodeficiency due to LRBA deficiency
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Combined immunodeficiency due to DOCK2 deficiency
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9B
Autosomal recessive spastic paraplegia type 9B
Mitochondrial pyruvate carrier deficiency
Polymerase proofreading-related polyposis
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Tremor-ataxia-central hypomyelination syndrome
Combined oxidative phosphorylation defect type 25
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Progressive scapulohumeroperoneal distal myopathy
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Progressive autosomal recessive ataxia-deafness syndrome
Isolated focal non-epidermolytic palmoplantar keratoderma
Regressive spondylometaphyseal dysplasia
IgG4-related submandibular gland disease
Adenosine monophosphate deaminase deficiency
Familial congenital nasolacrimal duct obstruction
X-linked lissencephaly with abnormal genitalia
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Congenital insensitivity to pain with severe intellectual disability
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Congenital fibrosis of extraocular muscles
Incessant infant ventricular tachycardia
Infantile multisystem neurologic-endocrine-pancreatic disease
Hereditary sensory neuropathy-deafness-dementia syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
Hereditary neuroendocrine tumor of small intestine
Autosomal dominant mitochondrial myopathy with exercise intolerance
Predisposition to invasive fungal disease due to CARD9 deficiency
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Multiple mitochondrial dysfunctions syndrome type 4
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Idiopathic spontaneous coronary artery dissection
Papillary intralymphatic angioendothelioma
Partially involuting congenital hemangioma
Spondyloepiphyseal dysplasia, Stanescu type
Autosomal recessive spastic paraplegia type 75
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
DYRK1A-related intellectual disability syndrome
Intellectual disability syndrome due to a DYRK1A point mutation
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Fever-associated acute infantile liver failure syndrome
Familial gastric type 1 neuroendocrine tumor
Congenital plasminogen activator inhibitor type 1 deficiency
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Symptomatic form of HFE-related hemochromatosis
Class I glucose-6-phosphate dehydrogenase deficiency
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Martinique crinkled retinal pigment epitheliopathy
Autosomal recessive spastic paraplegia type 77
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal dominant thrombocytopenia with platelet secretion defect
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Seizures-scoliosis-macrocephaly syndrome
VPS11-related autosomal recessive hypomyelinating leukodystrophy
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Microcephalic cortical malformations-short stature due to RTTN deficiency
Cryptogenic multifocal ulcerous stenosing enteritis
Chronic enteropathy associated with SLCO2A1 gene
Autosomal recessive spastic paraplegia type 74
Isolated generalized anhidrosis with normal sweat glands
Colobomatous macrophthalmia-microcornea syndrome
Rhizomelic chondrodysplasia punctata type 5
Hereditary papillary renal cell carcinoma
BVES-related limb-girdle muscular dystrophy
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Erythrokeratodermia-cardiomyopathy syndrome
Combined immunodeficiency due to TFRC deficiency
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
PMP2-related Charcot-Marie-Tooth disease type 1
Congenital generalized hypercontractile muscle stiffness syndrome
IL21-related infantile inflammatory bowel disease
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Combined oxidative phosphorylation defect type 26
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Combined oxidative phosphorylation defect type 27
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Combined oxidative phosphorylation defect type 29
Combined oxidative phosphorylation defect type 30
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Hereditary sensory and autonomic neuropathy type 8
Congenital bilateral absence of vas deferens
Progressive familial intrahepatic cholestasis type 5
Progressive familial intrahepatic cholestasis type 4
MYO5B-related progressive familial intrahepatic cholestasis
Lethal hydranencephaly-diaphragmatic hernia syndrome
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Isolated neonatal sclerosing cholangitis
POGLUT1-related limb-girdle muscular dystrophy R21
Hereditary thrombocytopenia with early-onset myelofibrosis
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
PYCR2-related microcephaly-progressive leukoencephalopathy
HTRA1-related autosomal dominant cerebral small vessel disease
Adenylosuccinate synthetase-like 1-related distal myopathy
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Congenital high-molecular-weight kininogen deficiency
Nodular regenerative hyperplasia of the liver
Congenital cataracts-facial dysmorphism-neuropathy syndrome
CLCN4-related X-linked intellectual disability syndrome
EMILIN-1-related connective tissue disease
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Autosomal dominant severe congenital neutropenia
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Embryonal carcinoma of the central nervous system
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Female infertility due to oocyte meiotic arrest
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Camptodactyly syndrome, Guadalajara type 3
Autosomal recessive spastic paraplegia type 76
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
DDX41-related hematologic malignancy predisposition syndrome
RERE-related neurodevelopmental syndrome
Idiopathic pleuroparenchymal fibroelastosis
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Infantile-onset generalized dyskinesia with orofacial involvement
Childhood-onset benign chorea with striatal involvement
Squamous cell carcinoma of the hypopharynx
Transgrediens et progrediens palmoplantar keratoderma
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Ocular anomalies-axonal neuropathy-developmental delay syndrome
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Childhood-onset basal ganglia degeneration syndrome
Menstrual cycle-dependent periodic fever
Thiamine-responsive megaloblastic anemia syndrome
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Overgrowth syndrome with 2q37 translocation
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Chronic relapsing inflammatory optic neuritis
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Noonan syndrome with multiple lentigines
Hao-Fountain syndrome due to 16p13.2 microdeletion
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
SIN3-related intellectual disability syndrome due to a point mutation
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oropharynx
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Squamous cell carcinoma of the oral cavity
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Severe combined immunodeficiency due to LAT deficiency
Combined immunodeficiency due to Moesin deficiency
Graham Little-Piccardi-Lassueur syndrome
Combined immunodeficiency due to GINS1 deficiency
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Ventilator-induced diaphragmatic dysfunction
Non-functioning neuroendocrine tumor of pancreas
Serotonin-producing neuroendocrine tumor of pancreas
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Lipodystrophy-intellectual disability-deafness syndrome
Zellweger-like syndrome without peroxisomal anomalies
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Oral-facial-digital syndrome with short stature and brachymesophalangy
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Hyperphenylalaninemia due to DNAJC12 deficiency
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Torsade-de-pointes syndrome with short coupling interval
Chronic lymphoproliferative disorder of natural killer cells
Autosomal recessive epidermolytic ichthyosis
Congenital cerebellar ataxia due to RNU12 mutation
Autosomal recessive spastic paraplegia type 78
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Generalized arterial calcification of infancy
Anterior cutaneous nerve entrapment syndrome
Autosomal recessive anterior segment dysgenesis
Craniosynostosis-intracranial calcifications syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Ulnar/fibula ray defect-brachydactyly syndrome
Sodium-dependent multivitamin transporter deficiency
Proximal myopathy with focal depletion of mitochondria
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
PLAA-associated neurodevelopmental disorder
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital vertebral-cardiac-renal anomalies syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Hereditary leiomyomatosis and renal cell cancer
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
X-linked creatine transporter deficiency
Encephalopathy due to mitochondrial and peroxisomal fission defect
Severe myopia-generalized joint laxity-short stature syndrome
Diaphragmatic hernia-short bowel-asplenia syndrome
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Non-specific syndromic intellectual disability
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Hereditary angioedema with C1Inh deficiency
Acquired angioedema with C1Inh deficiency
Isolated follicle stimulating hormone deficiency
Monoclonal mast cell activation syndrome
Duane retraction syndrome with congenital deafness
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Combined hepatocellular carcinoma and cholangiocarcinoma
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Male infertility due to acephalic spermatozoa
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Dermoid or epidermoid cyst of the central nervous system
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
Progressive dementia with neuroserpin inclusion bodies
KRT1-related diffuse nonepidermolytic keratoderma
Familial lipase maturation factor 1 deficiency
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Spondylodysplastic Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 2
Arthrogryposis-anterior horn cell disease syndrome
PLG-related hereditary angioedema with normal C1Inh
Cerebrofacial arteriovenous metameric syndrome type 2
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Congenital axonal neuropathy with encephalopathy
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
X-linked lymphoproliferative disease due to SAP deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to ITK deficiency
Familial hemophagocytic lymphohistiocytosis
Growth delay-intellectual disability-hepatopathy syndrome
Anomalous aortic origin of the left coronary artery
Anomalous aortic origin of the right coronary artery
Anomalous origin of coronary artery from the pulmonary artery
Combined immunodeficiency due to CARMIL2 deficiency
GNB5-related intellectual disability-cardiac arrhythmia syndrome
Leukoencephalopathy with calcifications and cysts
CAR T cell therapy-associated cytokine release syndrome
Auditory neuropathy-optic atrophy syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Primary membranoproliferative glomerulonephritis
SYNGAP1-related developmental and epileptic encephalopathy
Atypical hemolytic uremic syndrome with complement gene abnormality
Infection-related hemolytic uremic syndrome
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Streptococcus pneumoniae-associated hemolytic uremic syndrome
RNF13-related severe early-onset epileptic encephalopathy
Congenital primary megaureter, refluxing and obstructed form
Congenital myopathy with reduced type 2 muscle fibers
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Fibrohistiocytic inflammatory pseudotumor of the liver
Lymphoplasmacytic inflammatory pseudotumor of the liver
FLNA-related X-linked myxomatous valvular dysplasia
TNP03-related limb-girdle muscular dystrophy D2
HNRNPDL-related limb-girdle muscular dystrophy D3
Pancreatic agenesis-holoprosencephaly syndrome
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Spastic ataxia-dysarthria due to glutaminase deficiency
Neonatal epileptic encephalopathy due to glutaminase deficiency
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Autosomal recessive extra-oral halitosis
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Furuncular myiasis due to Dermatobia hominis
Furuncular myiasis due to Cordylobia anthropophaga
Furuncular myiasis due to Cordylobia rodhaini
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Primary triglyceride deposit cardiomyovasculopathy
Combined oxidative phosphorylation defect type 39
Infantile inflammatory bowel disease with neurological involvement
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
POMGNT2-related limb-girdle muscular dystrophy R24
Calpain-3-related limb-girdle muscular dystrophy D4
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Congenital autosomal recessive small-platelet thrombocytopenia
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Idiopathic non-lupus full-house nephropathy
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Idiopathic steroid-resistant nephrotic syndrome
Idiopathic multidrug-resistant nephrotic syndrome
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Parenteral nutrition-associated cholestasis
GJC2-related late-onset primary lymphedema
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
EPHB4-related lymphatic-related hydrops fetalis
Familial or sporadic hemiplegic migraine
Multiple mitochondrial dysfunctions syndrome type 5
Multiple mitochondrial dysfunctions syndrome type 6
CELSR1-related late-onset primary lymphedema
Glycogen storage disease due to aldolase A deficiency
Idiopathic multicentric Castleman disease
HHV-8-associated multicentric Castleman disease
QRSL1-related combined oxidative phosphorylation defect
Medial condensing osteitis of the clavicle
Immunodeficiency by defective expression of MHC class II
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
RFVT2-related riboflavin transporter deficiency
RFVT3-related riboflavin transporter deficiency
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Microcephaly-short stature-limb abnormalities syndrome
WARS2-related combined oxidative phosphorylation defect
Predisposition to severe viral infection due to IRF7 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Complete atrioventricular septal defect without ventricular hypoplasia
Partial atrioventricular septal defect with ventricular hypoplasia
Partial atrioventricular septal defect without ventricular hypoplasia
Intermediate atrioventricular septal defect
SATB2-associated syndrome due to a pathogenic variant
NLRC4-related familial cold autoinflammatory syndrome
Intraductal tubulopapillary neoplasm of pancreas
Lethal brain and heart developmental defects
QRICH1-related intellectual disability-chondrodysplasia syndrome
Congenital infiltrating lipomatosis of the face
Serine biosynthesis pathway deficiency, infantile/juvenile form
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
B-lymphoblastic leukemia/lymphoma with hypodiploidy
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
PUM1-associated developmental disability-ataxia-seizure syndrome
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Mixed phenotype acute leukemia with t(v;11q23.3)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Congenital-onset Steinert myotonic dystrophy
Childhood-onset Steinert myotonic dystrophy
Juvenile-onset Steinert myotonic dystrophy
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Sorsby pseudoinflammatory fundus dystrophy
GNAO1-related developmental delay-seizures-movement disorder spectrum
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
Neuromyelitis optica spectrum disorder with anti-MOG antibodies
Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
Acute transverse myelitis with anti-MOG antibodies
Acute disseminated encephalomyelitis with anti-MOG antibodies
Acute disseminated encephalomyelitis without anti-MOG antibodies
Neonatal ichthyosis-sclerosing cholangitis syndrome
Localized dystrophic epidermolysis bullosa
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Combined immunodeficiency due to RELA haploinsufficiency
TRIM22-related inflammatory bowel disease
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Euthyroid dysprealbuminemic hyperthyroxinemia
FOXG1 syndrome due to intragenic alteration
Multisystem inflammatory syndrome in children and adults
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Hypomyelination of early myelinating structures
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Factor V short isoforms-related bleeding disorder
3-methylcrotonyl-CoA carboxylase deficiency
Vocal cord and pharyngeal distal myopathy
Megalencephaly-capillary malformation-polymicrogyria syndrome
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
Combined deficiency of factor VII and factor X
Non-syndromic rectourethral fistula, bulbar type
Non-syndromic rectourethral fistula, prostatic type
Non-syndromic anorectal malformation without fistula
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
KLHL7-related Bohring-Opitz-like syndrome
KLHL7-related Crisponi/cold-induced sweating-like syndrome
Symptomatic form of X-linked centronuclear myopathy in female carriers
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Oculogastrointestinal-neurodevelopmental syndrome
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Aplastic anemia-intellectual disability-dwarfism syndrome
Spastic paraparesis-cataracts-speech delay syndrome
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Chronic intervillositis of unknown etiology
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Rare disorder without a determined diagnosis after full investigation
Twin-reversed arterial perfusion sequence
Selective intrauterine growth restriction
Classic eosinophilic pustular folliculitis
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
F12-associated cold autoinflammatory syndrome
Chronic neurovisceral acid sphingomyelinase deficiency
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
SAMD9L-associated autoinflammatory syndrome
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
Familial hyperinflammatory lymphoproliferative immunodeficiency
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Non-syndromic unicoronal craniosynostosis
Non-syndromic unilambdoid craniosynostosis
Non-syndromic unifrontosphenoidal craniosynostosis
Non-syndromic unisquamosal craniosynostosis
Non-syndromic non-specific multisutural craniosynostosis
Non-syndromic bilambdoid craniosynostosis
Non-syndromic unicoronal and sagittal craniosynostosis
Non-syndromic metopic and sagittal craniosynostosis
Non-syndromic bicoronal and metopic craniosynostosis
Non-syndromic bicoronal and sagittal craniosynostosis
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
EGF-related primary hypomagnesemia with intellectual disability
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Homocystinuria without methylmalonic aciduria
X-linked severe syndromic thoracic aortic aneurysm and dissection
SBDS-related severe neonatal spondylometaphyseal dysplasia
MIR140-related spondyloepiphyseal dysplasia
Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
Paraneoplastic isolated brainstem encephalitis
Non-specific autoimmune brainstem encephalitis with characteristic antibodies
Non-specific autoimmune brainstem encephalitis without characteristic antibodies
Non-specific autoimmune cerebellar ataxia with characteristic antibodies
Non-specific autoimmune cerebellar ataxia without characteristic antibodies
Large/giant congenital melanocytic nevus
Short stature due to growth hormone qualitative anomaly
Non-acquired isolated growth hormone deficiency
Autosomal dominant spastic paraplegia type 80
Autosomal recessive spastic paraplegia type 82
Autosomal recessive spastic paraplegia type 83
Autosomal recessive spastic paraplegia type 84
Autosomal recessive spastic paraplegia type 85
Autosomal recessive spastic paraplegia type 86
Autosomal recessive spastic paraplegia type 87
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Distal myopathy with posterior leg and anterior hand involvement
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Intellectual disability-early-onset cataract-microcephaly syndrome
Preaxial digit brachydactyly-webbed fingers
Isolated proximal femoral focal deficiency
Angel-shaped phalango-epiphyseal dysplasia
Vascular Ehlers-Danlos-polymicrogyria syndrome
Autosomal dominant myosin storage myopathy
Autosomal recessive myosin storage myopathy
SMARCA2-related blepharophimosis-intellectual disability syndrome
Hereditary neuropathy with liability to pressure palsies
Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
B-lymphoblastic leukemia/lymphoma with t(17;19)
Hereditary sensory and autonomic neuropathy type 4
EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Fragile X-associated primary ovarian insufficiency
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Autosomal recessive ataxia due to PEX16 deficiency
Autosomal recessive ataxia due to PEX2 deficiency
Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Hao-Fountain syndrome due to USP7 mutation
Terminal extramedullary conus spinal cord lipoma
Transitional extramedullary conus spinal cord lipoma
Posterior extramedullary conus spinal cord lipoma
Lipomatous non-saccular limited dorsal myeloschisis
Fibroneural non-saccular limited dorsal myeloschisis
Non-saccular limited dorsal myeloschisis
Intramedullary non-dysraphic spinal cord lipoma
Acrofacial dysostosis, Kennedy-Teebi type
Primary tuberculosis of the digestive system
Intermediate collagen VI-related muscular dystrophy
Dysplastic cortical hyperostosis, Al-Gazali type
CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
Pruritic urticarial papules and plaques of pregnancy
Hereditary motor and sensory neuropathy type 5
Hereditary sensory and autonomic neuropathy type 5
Spinocerebellar ataxia with axonal neuropathy type 2
Mandibuloacral dysplasia associated to MTX2
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Isolated primary pigmented nodular adrenocortical disease
Isolated micronodular adrenocortical disease
Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Combined immunodeficiency due to FCHO1 deficiency
Idiopathic pregnancy-associated osteoporosis
Non-syndromic congenital bronchial atresia
Genetic central precocious puberty in female
Secondary central precocious puberty in female
Primary central precocious puberty in male
Secondary central precocious puberty in male
Genetic central precocious puberty in male
Non-genetic central precocious puberty in male
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
Cleft palate-congenital heart defect-intellectual disability syndrome
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Adult-onset progressive leukoencephalopathy-early-onset deafness
Nodal T-follicular helper cell lymphoma, follicular type
Monomorphic epitheliotropic intestinal T-cell lymphoma
Biotin-thiamine-responsive basal ganglia disease
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Cone rod dystrophy-short stature syndrome
CHD4-related neurodevelopmental disorder
Autosomal recessive limb-girdle muscular dystrophy, type 28
Congenital insensitivity to pain syndrome, Marsili type
X-linked combined immunodeficiency due to SASH3 deficiency
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Hereditary steroid-resistant nephrotic syndrome
PBX1-related congenital anomalies of kidney-urinary tract syndrome
Intellectual disability-cupped ears syndrome
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Embryonal tumor with multilayered rosettes
Benign recurrent intrahepatic cholestasis
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Arthrogryposis-severe scoliosis syndrome
Autosomal dominant multiple pterygium syndrome
Multiple self-healing squamous epithelioma
Transplant-related bronchiolitis obliterans
Non-transplant-related bronchiolitis obliterans
COQ7-related distal hereditary motor neuropathy
Greig cephalopolysyndactyly-contiguous gene syndrome
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
Early-onset immune dysregulation due to DOCK11 complete deficiency
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
Congenital central hypoventilation syndrome
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
MBD4-related tumor predisposition syndrome
Phelan-McDermid syndrome due to 22q13.3 deletion
Phelan-McDermid syndrome due to SHANK3 mutation
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
Congenital muscular dystrophy-cataract-intellectual disability syndrome
Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
Episodic memory defect leukoencephalopathy
Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Acute megakaryoblastic leukemia in adult
Mitochondrial DNA-related progressive external ophthalmoplegia
MGP-related spondyloepiphyseal dysplasia
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
Hermansky-Pudlak syndrome due to AP3B1 deficiency
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
EBV-induced lymphoproliferative disease due to PRKCD deficiency
EBV-induced lymphoproliferative disease due to CD137 deficiency
EBV-induced lymphoproliferative disease due to TET2 deficiency
Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
Common arterial trunk with aortic dominance
Common arterial trunk with pulmonary dominance and interrupted aortic arch
Short fifth metacarpals-insulin resistance syndrome
Obesity due to congenital leptin deficiency
Congenital pseudoarthrosis of the clavicle
Sensorineural hearing loss-early graying-essential tremor syndrome
Autosomal recessive malignant osteopetrosis
Breast implant-associated anaplastic large cell lymphoma
Autosomal dominant optic atrophy and cataract
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked intellectual disability with isolated growth hormone deficiency
Craniosynostosis-facial dysmorphism-brachydactyly syndrome
Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
Intravascular papillary endothelial hyperplasia
Pilocytic astrocytoma with histological features of anaplasia
Actinomyopathy-associated syndromic thrombocytopenia
Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
Perifoveal exudative vascular anomalous complex
Diffuse unilateral subacute neuroretinitis
Stellate multiform amelanotic choroidopathy
Bilateral diffuse uveal melanocytic proliferation disease
TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Well-differentiated papillary mesothelial tumour of the pleura
Autosomal dominant hereditary chronic pancreatitis
Well-differentiated papillary mesothelial tumour of the peritoneum
Combined immunodeficiency due to FOXN1 haploinsufficiency
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome
Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
Isolated growth hormone deficiency type IV
Combined immunodeficiency due to TBX1 deficiency
Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
Pediatric acute respiratory distress syndrome
Non-fibrotic hypersensitivity pneumonitis
Post 5-alpha-reductase inhibitors treatment syndrome
Post-selective serotonin reuptake inhibitor sexual dysfunction
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
Isolated congenital cholesteatoma of the middle ear
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
Single-system multifocal Langerhans cell histiocytosis
Multisystem Langerhans cell histiocytosis
Reticular dysgenesis-like severe combined immunodeficiency
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
Combined immunodeficiency due to RELB deficiency
Isolated spontaneous cervical artery dissection
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
IFIH1-related hereditary spastic paraplegia
RNASEH2B-related hereditary spastic paraplegia
Poirier-Bienvenu neurodevelopmental syndrome
Structural heart defects-renal anomalies syndrome
Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
Idiopathic steroid-sensitive nephrotic syndrome
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Odonto-tricho-ungual-digito-palmar syndrome
Ectodermal dysplasia with natal teeth, Turnpenny type
Naegeli-Franceschetti-Jadassohn syndrome
Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Marbach-Schaaf neurodevelopmental syndrome
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
Idiopathic triglyceride deposit cardiomyovasculopathy
Triglyceride deposit cardiomyovasculopathy
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome
Agammaglobulinemia-skin involvement-failure to thrive syndrome
Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
Gastrointestinal tract arteriovenous malformation
Urinary tract arteriovenous malformation
RASA1-related capillary malformation-arteriovenous malformation
EPHB4-related capillary malformation-arteriovenous malformation
Congenital intrahepatic arterioportal fistula
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
ADAR-related hereditary spastic paraplegia
Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
Pure squamous carcinoma of the urothelial tract
Acinar cystic transformation of the pancreas
Combined immunodeficiency due to dimerization defective IKAROS mutation
Late-onset combined immunodeficiency due to ICOS deficiency
Late-onset combined immunodeficiency due to ICOSL deficiency
Primary vitreoretinal large B-cell lymphoma
Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 3
PPARG-associated congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 2
Low phospholipid-associated cholelithiasis
Female adnexal tumor of probable Wolffian origin
Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations
Common variable immunodeficiency phenotype due to somatic mutations
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
Common variable immunodeficiency phenotype due to CD21 deficiency
Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
Common variable immunodeficiency phenotype due to homozygous TACI deficiency
Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency
Common variable immunodeficiency phenotype due to TWEAK deficiency
Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency
X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
Bilateral acute depigmentation of the iris
Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency
Combined immunodeficiency due to HELIOS deficiency
Athabaskan brainstem dysgenesis syndrome
Combined immunodeficiency due to c-REL deficiency
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
Common variable immunodeficiency phenotype due to SEC61A1 deficiency
Circumscribed palmoplantar hypokeratosis
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
Epilepsy with generalized tonic-clonic seizures alone
Fibromuscular dysplasia of the cervical and intracranial arteries
Fibromuscular dysplasia of the renal arteries
Fibromuscular dysplasia of the coronary arteries
Fibromuscular dysplasia of the visceral arteries
Fibromuscular dysplasia of the arteries of the extremities
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
Autoimmune heparin-induced thrombocytopenia
Spontaneous heparin-induced thrombocytopenia
Vaccine-induced immune thrombotic thrombocytopenia
Combined immunodeficiency with low Ig due to BCL10 deficiency
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency
Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency
NEMO deleted exon 5 autoinflammatory syndrome
Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency
Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency
Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome
Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
Sickle cell S-other specified hemoglobin variant
Autosomal recessive hereditary chronic pancreatitis
Early-onset idiopathic chronic pancreatitis
Late-onset idiopathic chronic pancreatitis
TARDBP-related predominantly upper-limb distal myopathy
ADNP-related blepharophimosis-intellectual disability syndrome
Asymetric thumb-handgrip weakness-distal myopathy
Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
Combined immunodeficiency due to IKBKB gain-of-function mutation
Congenital high airway obstruction syndrome
NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Post-transplant lymphoproliferative disease
Adult acute respiratory distress syndrome
Chronic thromboembolic pulmonary hypertension
Transient predisposition to invasive pyogenic bacterial infection
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Hemolytic anemia due to glucophosphate isomerase deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Classic glucose transporter type 1 deficiency syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Familial platelet disorder with associated myeloid malignancy
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Benign paroxysmal torticollis of infancy
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to melanocortin 4 receptor deficiency
Developmental and epileptic encephalopathy with spike-wave activation in sleep
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney disease
Global developmental delay-osteopenia-ectodermal defect syndrome
Kidney tubulopathy-dilated cardiomyopathy syndrome
Ossification anomalies-psychomotor developmental delay syndrome
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Bleeding diathesis due to a collagen receptor defect
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay due to insulin-like growth factor I resistance
Porokeratosis plantaris palmaris et disseminata
Severe hereditary thrombophilia due to congenital protein S deficiency
Severe hereditary thrombophilia due to congenital protein C deficiency
Mitochondrial trifunctional protein deficiency
Autoimmune pulmonary alveolar proteinosis
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Familial isolated restrictive cardiomyopathy
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Familial isolated retinal arteriolar tortuosity
Progressive bifocal chorioretinal atrophy
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Acquired idiopathic sideroblastic anemia
Purine nucleoside phosphorylase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Infantile neurovisceral acid sphingomyelinase deficiency
Chronic visceral acid sphingomyelinase deficiency
Anophthalmia/microphthalmia-esophageal atresia syndrome
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
X-linked non-syndromic intellectual disability
Generalized glucocorticoid resistance syndrome
Congenital alpha2-antiplasmin deficiency
IgG4-related dacryoadenitis and sialadenitis
PPARG-related familial partial lipodystrophy
Familial partial lipodystrophy, Köbberling type
AKT2-related familial partial lipodystrophy
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Congenital bile acid synthesis defect type 4
Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
Interstitial granulomatous dermatitis with arthritis
Developmental malformations-deafness-dystonia syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome
Respiratory bronchiolitis-interstitial lung disease syndrome
Trichodysplasia-amelogenesis imperfecta syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome
Familial reactive perforating collagenosis
Linear and whorled nevoid hypermelanosis
Disseminated superficial actinic porokeratosis
Seizures-intellectual disability due to hydroxylysinuria syndrome
2-methylbutyryl-CoA dehydrogenase deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase phosphatase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia with homocystinuria type cblF
Congenital glucokinase-related hyperinsulinism
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 2
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Brachytelephalangic chondrodysplasia punctata
Chondrodysplasia punctata, tibial-metacarpal type
Chondrodysplasia punctata, Toriello type
3-phosphoserine phosphatase deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
Keratoderma hereditarium mutilans with ichthyosis
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Epidermolysis bullosa simplex with mottled pigmentation
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
Intermediate generalized junctional epidermolysis bullosa
Junctional epidermolysis bullosa with pyloric atresia
Severe generalized junctional epidermolysis bullosa
Junctional epidermolysis bullosa inversa
Late-onset junctional epidermolysis bullosa
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Recessive dystrophic epidermolysis bullosa inversa
Localized dystrophic epidermolysis bullosa, pretibial form
Self-improving dystrophic epidermolysis bullosa
X-linked lethal multiple pterygium syndrome
Inflammatory linear verrucous epidermal nevus
X-linked congenital generalized hypertrichosis
Autosomal dominant deafness-onychodystrophy syndrome
Punctate palmoplantar keratoderma type 1
Punctate palmoplantar keratoderma type 2
Hypotonia-failure to thrive-microcephaly syndrome
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Encephalopathy due to sulfite oxidase deficiency
T-cell immunodeficiency with thymic aplasia
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Microcytic anemia with liver iron overload
Congenital nephrotic syndrome, Finnish type
Idiopathic malabsorption due to bile acid synthesis defects
Desmin-related myopathy with Mallory body-like inclusions
X-linked alpha-thalassemia-intellectual disability syndrome
Familial encephalopathy with neuroserpin inclusion bodies
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Cystic leukoencephalopathy without megalencephaly
Neurogenic scapuloperoneal syndrome, Kaeser type
Facial onset sensory and motor neuronopathy
Hypomyelination-congenital cataract syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Familial digital arthropathy-brachydactyly
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Infantile osteopetrosis with neuroaxonal dysplasia
Diaphyseal medullary stenosis-bone malignancy syndrome
Craniometadiaphyseal dysplasia, wormian bone type
Endosteal sclerosis-cerebellar hypoplasia syndrome
Metaphyseal dysplasia, Braun-Tinschert type
Calvarial doughnut lesions-bone fragility syndrome
Craniosynostosis-anal anomalies-porokeratosis syndrome
X-linked thrombocytopenia with normal platelets
X-linked intellectual disability, Abidi type
Syndromic X-linked intellectual disability 7
Microphthalmia-ankyloblepharon-intellectual disability syndrome
X-linked intellectual disability, Armfield type
X-linked intellectual disability, Cantagrel type
KDM5C-related syndromic X-linked intellectual disability
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability, Miles-Carpenter type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Shashi type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability, Wilson type
X-linked intellectual disability, Cabezas type
X-linked epilepsy-learning disabilities-behavior disorders syndrome
Fetal and neonatal alloimmune thrombocytopenia
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Shrimpton type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
X-linked intellectual disability-ataxia-apraxia syndrome
Non-malignant and non-cirrhotic portal vein thrombosis
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Oligoarticular juvenile idiopathic arthritis
Systemic-onset juvenile idiopathic arthritis
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Psoriasis-related juvenile idiopathic arthritis
Enthesitis-related juvenile idiopathic arthritis
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Hereditary amyloidosis with primary renal involvement
Congenitally uncorrected transposition of the great arteries
POMT1-related limb-girdle muscular dystrophy R11
Helicoid peripapillary chorioretinal degeneration
Hemolytic anemia due to adenylate kinase deficiency
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Familial avascular necrosis of femoral head
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Chronic myeloproliferative disease, unclassifiable
Myelodysplastic neoplasm with increased blasts
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Acute myeloid leukaemia with myelodysplasia-related features
Non-amyloid monoclonal immunoglobulin deposition disease
Blastic plasmacytoid dendritic cell neoplasm
T-cell large granular lymphocyte leukemia
Subcutaneous panniculitis-like T-cell lymphoma
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Nodular lymphocyte predominant Hodgkin lymphoma
Dendritic cell sarcoma not otherwise specified
Methotrexate-associated lymphoproliferative disorders
Gelastic seizures with hypothalamic hamartoma
Hemiconvulsion-hemiplegia-epilepsy syndrome
Myoclonic epilepsy in non-progressive encephalopathies
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Keratosis palmaris et plantaris-clinodactyly syndrome
Hereditary progressive cardiac conduction defect
Autosomal recessive non-syndromic intellectual disability
S-adenosylhomocysteine hydrolase deficiency
Familial acute necrotizing encephalopathy
Posterior column ataxia-retinitis pigmentosa syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Autosomal dominant progressive nephropathy with hypertension
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
MUC1-related autosomal dominant tubulointerstitial kidney disease
UMOD-related autosomal dominant tubulointerstitial kidney disease
Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Dystrophic epidermolysis bullosa pruriginosa
Lissencephaly syndrome, Norman-Roberts type
Autosomal dominant hypophosphatemic rickets
X-linked cone dysfunction syndrome with myopia
Undifferentiated connective tissue syndrome
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Deafness with labyrinthine aplasia, microtia, and microdontia
Hemolytic anemia due to glutathione reductase deficiency
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Drug-induced autoimmune hemolytic anemia
Shiga toxin-associated hemolytic uremic syndrome
Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Complications after hematopoietic stem cell transplantation
Moderate and severe traumatic brain injury
Acquired aneurysmal subarachnoid hemorrhage
Pneumonia caused by Pseudomonas aeruginosa infection
Hepatitis B reinfection following liver transplantation
Partial deep dermal and full thickness burns
Invasive infections due to vancomycin-resistant enterococci
Scarring in glaucoma filtration surgical procedures
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Hereditary motor and sensory neuropathy, Okinawa type
Severe early-onset axonal neuropathy due to MFN2 deficiency
Hereditary motor and sensory neuropathy with acrodystrophy
Hereditary motor and sensory neuropathy type 6
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Panniculitis-induced localized lipodystrophy
Hypertrophic or verrucous lupus erythematosus
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Capillary-lymphatic-venous malformation with segmental distribution
Telangiectasia macularis eruptiva perstans
Localized lichen myxedematosus with mixed features of different subtypes
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Scleromyxedema without monoclonal gammopathy
Rare X-linked non-syndromic sensorineural deafness type DFN
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Rare mitochondrial non-syndromic sensorineural deafness
Hypothyroidism due to TSH receptor mutations
Isolated thyroid-stimulating hormone deficiency
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
46,XY difference of sex development due to isolated 17,20-lyase deficiency
Combined immunodeficiency due to ZAP70 deficiency
Adenovirus infection in immunocompromised patients
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Unspecified juvenile idiopathic arthritis
Pituitary deficiency due to Rathke cleft cysts
Pituitary deficiency due to empty sella turcica syndrome
Familial thoracic aortic aneurysm and aortic dissection
Isolated ankyloblepharon filiforme adnatum
Macular coloboma-cleft palate-hallux valgus syndrome
Persistent hyperplastic primary vitreous
Familial congenital palsy of trochlear nerve
Tubulointerstitial nephritis and uveitis syndrome
Hyperammonemia due to N-acetylglutamate synthase deficiency
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Hypocalcemic vitamin D-resistant rickets
Fragile X-associated tremor/ataxia syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Cloverleaf skull-multiple congenital anomalies syndrome
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome, Verma-Naumoff type
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepiphyseal dysplasia, Kimberley type
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Sedaghatian type
Autosomal recessive Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
Polydactyly of a biphalangeal thumb and/or hallux
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
X-linked spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Irapa type
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Familial hypocalciuric hypercalcemia type 1
Short-limb skeletal dysplasia with severe combined immunodeficiency
Light and heavy chain deposition disease
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Congenital thrombotic thrombocytopenic purpura
Immune-mediated thrombotic thrombocytopenic purpura
Nephrogenic syndrome of inappropriate antidiuresis
Autosomal recessive proximal renal tubular acidosis
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Midline interhemispheric variant of holoprosencephaly
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability, Hedera type
Blepharospasm-oromandibular dystonia syndrome
Open spinal dysraphism with a myelomeningocele
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Spinocerebellar ataxia with axonal neuropathy type 1
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Straddling or overriding tricuspid valve
Combined pituitary hormone deficiencies, genetic forms
Acquired arginine vasopressin deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Beckwith-Wiedemann syndrome due to 11p15 microduplication
8p inverted duplication/deletion syndrome
Kleefstra syndrome due to 9q34 microdeletion
Maternal uniparental disomy of chromosome 2 syndrome
Maternal uniparental disomy of chromosome 4 syndrome
Maternal uniparental disomy of chromosome 6 syndrome
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Maternal uniparental disomy of chromosome 9 syndrome
Temple syndrome due to maternal uniparental disomy of chromosome 14
Maternal uniparental disomy of chromosome 16 syndrome
Maternal uniparental disomy of chromosome 20 syndrome
Maternal uniparental disomy of chromosome 21 syndrome
Maternal uniparental disomy of chromosome 22 syndrome
Paternal uniparental disomy of chromosome 5 syndrome
Paternal uniparental disomy of chromosome 6 syndrome
Paternal uniparental disomy of chromosome 7 syndrome
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Paternal uniparental disomy of chromosome 20 syndrome
Paternal uniparental disomy of chromosome 21 syndrome
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Acromesomelic dysplasia, Hunter-Thompson type
Hereditary sensory and autonomic neuropathy type 2
Hereditary continuous muscle fiber activity
Glycogen storage disease due to phosphoglycerate mutase deficiency
Familial papillary thyroid carcinoma with renal papillary neoplasia
Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Unilateral multicystic dysplastic kidney
Renal tubular dysgenesis due to twin-twin transfusion
Renal tubular dysgenesis of genetic origin
Pauci-immune glomerulonephritis with ANCA
Pauci-immune glomerulonephritis without ANCA
Adenine phosphoribosyltransferase deficiency
Maternal uniparental disomy of chromosome 13 syndrome
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal dominant optic atrophy, classic form
Autosomal recessive isolated optic atrophy
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Prader-Willi syndrome due to paternal 15q11q13 deletion
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Autosomal dominant dopa-responsive dystonia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Self-limited epilepsy with autonomic seizures
Familial focal epilepsy with variable foci
Unclassified myelodysplastic/myeloproliferative disease
Myelodysplastic neoplasm with low blasts
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with minimal differentiation
Acute myeloblastic leukemia without maturation
Acute myeloblastic leukemia with maturation
Primary mediastinal large B-cell lymphoma
Classic Hodgkin lymphoma, nodular sclerosis type
Classic Hodgkin lymphoma, mixed cellularity type
Classic Hodgkin lymphoma, lymphocyte-rich type
Classic Hodgkin lymphoma, lymphocyte-depleted type
Systemic mastocytosis with associated hematologic neoplasm
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive Emery-Dreifuss muscular dystrophy
X-linked Emery-Dreifuss muscular dystrophy
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type III
Transient erythroblastopenia of childhood
Congenital dyserythropoietic anemia type II
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Congenital myopathy with excess of thin filaments
Congenital multicore myopathy with external ophthalmoplegia
Neutral lipid storage disease with ichthyosis
Neutral lipid storage disease with myopathy
Late-onset distal myopathy, Markesbery-Griggs type
Postsynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes
Synaptic congenital myasthenic syndromes
Acute inflammatory demyelinating polyradiculoneuropathy
Acute motor and sensory axonal neuropathy
Spinal muscular atrophy with respiratory distress type 1
Multiple system atrophy, parkinsonian type
Subepithelial mucinous corneal dystrophy
Posterior polymorphous corneal dystrophy
Agnathia-holoprosencephaly-situs inversus syndrome
Adult-onset foveomacular vitelliform dystrophy
Reticular dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating fundus flavimaculatus
X-linked Charcot-Marie-Tooth disease type 5
Adult-onset autosomal dominant leukodystrophy
Congenitally uncorrected transposition of the great arteries with coarctation
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Pulmonary artery coming from patent ductus arteriosus
Abnormal origin of right or left pulmonary artery from the aorta
Discrete fixed membranous subaortic stenosis
Discrete fibromuscular subaortic stenosis
Congenital anomaly of the tricuspid valve chordae
Straddling and/or overriding mitral valve
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Congenital patent ductus arteriosus aneurysm
Atrial septal defect, ostium secundum type
Atrial septal defect, coronary sinus type
Atrial septal defect, sinus venosus type
Atrial septal defect, ostium primum type
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
Right superior vena cava connecting to left-sided atrium
Persistent left superior vena cava connecting to the roof of left-sided atrium
Right inferior vena cava connecting to left-sided atrium
Azygos continuation of the inferior vena cava
Congenital stenosis of the inferior vena cava
Inferior vena cava interruption without azygos continuation
Congenital partial pulmonary venous return anomaly
Congenital total pulmonary venous return anomaly
Congenital complete agenesis of pericardium
Congenital partial agenesis of pericardium
6-phosphogluconate dehydrogenase deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Lymphedema-posterior choanal atresia syndrome
Paternal uniparental disomy of chromosome 13 syndrome
Isolated familial medullary thyroid carcinoma
Turner syndrome due to structural X chromosome anomalies
Complete androgen insensitivity syndrome
Spondyloepimetaphyseal dysplasia, Handigodu type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Mesial temporal lobe epilepsy with hippocampal sclerosis
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Punctate acrokeratoderma freckle-like pigmentation
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Atypical progressive supranuclear palsy syndrome
Dentin dysplasia-sclerotic bones syndrome
Resistance to thyrotropin-releasing hormone syndrome
Glycogen storage disease due to muscle beta-enolase deficiency
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Isolated permanent neonatal diabetes mellitus
Acute megakaryoblastic leukemia in children with Down syndrome
Cushing syndrome due to ectopic ACTH secretion
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Malignant granulosa cell tumor of the ovary
Malignant Sertoli-Leydig cell tumor of the ovary
Theca steroid-producing cell malignant tumor of ovary, not further specified
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Adenocarcinoma of the oesophagus and oesophagogastric junction
Squamous cell carcinoma of the esophagus