Term Name: early-onset vitamin B6-dependent epilepsy 4
Synonyms: AASA dehydrogenase deficiency, antiquitin deficiency, EPEO4, PDE-ALDH7A1
Definition: A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.
Ontology: Human Disease [DOID:0070519]   ( DOID:0070519 )

Relationships
is a type of: pyridoxine-dependent epilepsy