Rare Disease Library

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

IVIC syndrome

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

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Jawad syndrome

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Pyknoachondrogenesis

Camera syndrome

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Thoracomelic dysplasia

Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type