| Metadata | |
|---|---|
| ID | DOID:0070519 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/29053735/, https://pubmed.ncbi.nlm.nih.gov/30043187/, https://www.ncbi.nlm.nih.gov/books/NBK1486/ |
| Xrefs | |
| Synonyms |
AASA dehydrogenase deficiency [EXACT] antiquitin deficiency [EXACT] EPEO4 [EXACT] PDE-ALDH7A1 [EXACT] |
| Parent Relationships |