Disease Term Disease ID Gene Symbol Classification References Source
Richieri Costa Pereira syndrome C1849348 EIF4A3 Causal Pathogenic evidence from ClinVar 9449664, 23376982, 24360804, 24360810, 29112243 ClinVar
Richieri Costa-Pereira syndrome 3102 EIF4A3 Causal Pathogenic evidence from ClinVar - ClinVar