Term Name: | hypomyelinating leukodystrophy 4 |
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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 ) |