Term Name: hypomyelinating leukodystrophy 4
Synonyms: HLD4, MitCHAP60 disease, mitochondrial HSP60 chaperonopathy, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
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.
Ontology: Human Disease [DOID:0060789]   ( DOID:0060789 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy