Early onset epilepsy with developmental delay

Disease Term Disease ID Gene Symbol Classification References Source
EPILEPSY, EARLY-ONSET, 2, WITH OR WITHOUT DEVELOPMENTAL DELAY
618832C5882670
SETD1A Unknown — Disgenet HPO
EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY
620465C5882674MONDO:0958196
ATP6V0C Causal
33190975 24623842 28135719 36074901
ClinVar Disgenet GWAS catalog HPO
EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY
615400C3809374OMIM:615400
CNTN2 Unknown — CTD Disgenet HPO
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
MONDO:0030005
SETD1A Causal — ClinVar GenCC