Disease Term Disease ID Gene Symbol Classification References Source
RITSCHER-SCHINZEL SYNDROME 2 C4225419 CCDC22 Causal Pathogenic evidence from ClinVar 21826058, 23563313, 24916641 ClinVar
RITSCHER-SCHINZEL SYNDROME 1 C4551776 WASHC5 Causal Pathogenic evidence from ClinVar 24065355, 24916641 ClinVar