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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

MIM:619851

Synonyms

HLD24 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hypomyelinating leukodystrophy

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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