Disease Term Disease ID Gene Symbol Classification References Source
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy C1970203 STRADA Causal Pathogenic evidence from ClinVar 20424326, 27170158, 28688840, 30311510 ClinVar
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome 500533 STRADA Causal Pathogenic evidence from ClinVar - ClinVar