Ocular coloboma, with or without hearing impairment, cleft lip/palate, and/or mental retardation

Disease Term Disease ID Gene Symbol Classification References Source
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION C3805432 YAP1 Causal Pathogenic evidence from ClinVar 24462371, 27267789, 28801591 ClinVar
Uveal coloboma-cleft lip and palate-intellectual disability 1473 YAP1 Causal Pathogenic evidence from ClinVar - ClinVar