Metadata | |
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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/31587869/, https://pubmed.ncbi.nlm.nih.gov/33785861/ |
Xrefs | |
Synonyms |
HLD19 [EXACT] |
Parent Relationships |