Version: 8.0.0
Date: Tue Jan 28 2025
early-onset vitamin B6-dependent epilepsy 4
DOID:0070519
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

early-onset vitamin B6-dependent epilepsy 4

Definition
A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.
Synonyms
  • AASA dehydrogenase deficiency
  • antiquitin deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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