| Term Name: | hypomyelinating leukodystrophy 24 |
|---|---|
| Synonyms: | HLD24 |
| Definition: | A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. |
| Ontology: | Human Disease [DOID:0070406] ( DOID:0070406 ) |