| Metadata | |
|---|---|
| ID | DOID:0060791 |
| Name | hypomyelinating leukodystrophy 9 |
| Definition | A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24777941 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HLD9 [EXACT] RARS-related autosomal recessive hypomyelinating leukodystrophy [EXACT] |
| Parent Relationships |