| Metadata | |
|---|---|
| ID | DOID:0080769 |
| Name | early-onset vitamin B6-dependent epilepsy 1 |
| Definition | A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. https://www.ncbi.nlm.nih.gov/books/NBK589231/, https://pubmed.ncbi.nlm.nih.gov/30668673/, https://pubmed.ncbi.nlm.nih.gov/27912044/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617290 |
| Synonyms |
EPEO1 [EXACT] PDE-PLPBP [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Abnormality of vitamin B metabolism has material basis in some autosomal recessive inheritance |