| Metadata | |
|---|---|
| ID | DOID:0060789 |
| Name | hypomyelinating leukodystrophy 4 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HLD4 [EXACT] MitCHAP60 disease [EXACT] mitochondrial HSP60 chaperonopathy [EXACT] Pelizaeus-Merzbacher-like disease due to HSPD1 mutation [EXACT] |
| Parent Relationships |