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Human Disease
hypomyelinating leukodystrophy 19
- Term ID
- DOID:0070400
- Synonyms
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- HLD19
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070400 )
- is a type of
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