early-onset vitamin B6-dependent epilepsy 4

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Summary

Literature (0)

DOID:0070519 - early-onset vitamin B6-dependent epilepsy 4

Disease Ontology 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, EPEO4, PDE-ALDH7A1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aldh7a1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): pyridoxine-dependent epilepsy (is_a)