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Human Disease

hypomyelinating leukodystrophy 19

Term ID
DOID:0070400
Synonyms
  • 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 )
Relationships
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Genes Involved
Zebrafish Models