Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT CBL Unknown Disgenet
PLPBP Unknown Disgenet HPO
EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT ALDH7A1 Unknown HPO
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT PLPBP Causal ClinVar Orphanet