Rare Disease Library

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Combined dystonia

Dystonia-plus syndrome

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Dystonia-aphonia syndrome

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Spinocerebellar ataxia-dysmorphism syndrome