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Metadata
ID DOID:0070400
Name hypomyelinating leukodystrophy 19
Definition A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.
https://pubmed.ncbi.nlm.nih.gov/33785861/, https://pubmed.ncbi.nlm.nih.gov/31587869/
Xrefs

MIM:618688

Synonyms

HLD19 [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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