Term Name: | early-onset vitamin B6-dependent epilepsy 4 |
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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 ) |