| Metadata | |
|---|---|
| ID | DOID:0060793 |
| Name | hypomyelinating leukodystrophy 5 |
| Definition | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. https://www.ncbi.nlm.nih.gov/pubmed/16951682, https://www.ncbi.nlm.nih.gov/pubmed/17683097 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HLD5 [EXACT] hypomyelination-congenital cataract syndrome [EXACT] |
| Parent Relationships |