Rare Disease Library

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

Hirschsprung disease-ganglioneuroblastoma syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

Hirschsprung disease-type D brachydactyly syndrome

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

Rare disorder with Hirschsprung disease as a major feature

Hinman syndrome

HAS · HS

Pure hereditary spastic paraplegia

Pure HSP · Pure SPG