Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060789 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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