Version: 8.0.0
Date: Tue Jan 28 2025
hypomyelinating leukodystrophy 19
DOID:0070400
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • HLD19
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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