. "mitochondrial HSP60 chaperonopathy"@en . . "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."^^ . "MitCHAP60 disease"@en . _:vb50939398 . _:vb50939398 . "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"@en . . _:vb50939398 . _:vb50939398 . "hypomyelinating leukodystrophy 4"^^ . "ICD10CM:E75.2"^^ . "DOID:0060789"^^ . "disease_ontology"^^ . . "OMIM:612233"^^ . "ORDO:280288"^^ . _:vb50939398 . "HLD4"@en .