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Epilepsy, Early-Onset, Vitamin B6-Dependent (MONDO:0015005)

A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.

Overview

Category

Ontology ID

Internal:15981

Synonyms

EPVB6D

epilepsy, early-onset, vitamin B6-dependent

epilepsy, early-onset, vitamin B6-dependent; EPVB6D

Mapped terms

DOID:0080769

GARD:0025048

MEDGEN:934599

OMIM:617290

UMLS:C4310632

Child terms

Unknown children.