Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability (COB1)

Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability, also known as coloboma, cleft lip-palate and mental retardation syndrome, is related to coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development and coloboma of macula. An important gene associated with Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability is YAP1 (Yes1 Associated Transcriptional Regulator), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye and lung, and related phenotypes are sensorineural hearing impairment and chorioretinal coloboma