hypomyelinating leukodystrophy 4 (DOID:0060789)
Alliance: disease page
Synonyms: HLD4; MitCHAP60 disease; mitochondrial HSP60 chaperonopathy; Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Alt IDs: OMIM:612233, ICD10CM:E75.2, ORDO:280288
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.