| Term Name: | hypomyelinating leukodystrophy 9 |
|---|---|
| Synonyms: | HLD9, RARS-related autosomal recessive hypomyelinating leukodystrophy |
| 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. |
| Ontology: | Human Disease [DOID:0060791] ( DOID:0060791 ) |