Rare Disease Library

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Hydrocephalus-blue sclerae-nephropathy syndrome

Daentl-Townsend-Siegel syndrome

Idiopathic nephrotic syndrome

Myoclonus-dystonia syndrome

Alcohol-responsive dystonia · Hereditary essential myoclonus

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Sialidosis type 1

Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis