| Metadata | |
|---|---|
| ID | DOID:0070406 |
| Name | hypomyelinating leukodystrophy 24 |
| 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. https://pubmed.ncbi.nlm.nih.gov/34403372/ |
| Xrefs | |
| Synonyms |
HLD24 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |