Rare Disease Library

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

Cohen-Gibson syndrome

EED-related overgrowth syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

DYRK1A-related intellectual disability syndrome

DYRK1A syndrome

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

EN1-related dorsoventral syndrome

ENDOVES · ENDOVE syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

Imagawa-Matsumoto syndrome

SUZ12-related overgrowth syndrome

Infantile convulsions and choreoathetosis

ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Infection-related hemolytic uremic syndrome

Infection-related HUS

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

Iridocorneal endothelial syndrome

ICE syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Joubert syndrome and related disorders

JSRD

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

KLHL7-related Crisponi/cold-induced sweating-like syndrome

KLHL7-related Crisponi-like syndrome

LAMA5-related multisystemic syndrome

LAMB2-related infantile-onset nephrotic syndrome

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

Locked-in syndrome

Pseudocoma · LIS

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Marfan syndrome and Marfan-related disorders

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome