hypomyelinating leukodystrophy 4

Term ID

DOID:0060789

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. https://www.ncbi.nlm.nih.gov/pubmed/18571143

References

• ICD10CM:E75.2
• OMIM:612233
• ORDO:280288

Ontology

Human Disease   ( DOID:0060789 )