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 |