Rare Disease Library

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acropectorovertebral dysplasia

F syndrome

ALDH18A1-related De Barsy syndrome

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

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Bannayan-Riley-Ruvalcaba syndrome

BRRS · Myhre-Riley-Smith syndrome

BAP1-related tumor predisposition syndrome

Tumor susceptibility linked to germline BAP1 mutations

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

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

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

C syndrome

OTCS · Opitz C trigonocephaly

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

PHD syndrome · Polyvalvular heart disease syndrome

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

CHD4-related neurodevelopmental disorder

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

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus 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

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

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

NR4A2-related neurodevelopmental syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

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

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Fried syndrome

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

H syndrome