Rare Disease Library

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

Infantile epileptic spasms syndrome

IESS

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome

Spina bifida and other spinal dysraphisms

Isolated spina bifida · Isolated spinal dysraphism