Term Name:	Pelizaeus-Merzbacher disease
Synonyms:	diffuse familial brain sclerosis, HLD1, hypomyelinating leukodystrophy 1, Leukodystrophy, sudanophilic, Pelizaeus Merzbacher brain sclerosis, Pelizaeus-Merzbacher brain sclerosis, PMD, sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Definition:	A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
Ontology:	Human Disease [DOID:3210]   ( DOID:3210 )