Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Impaired Intellectual Development (COB1)

Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Impaired Intellectual Development, also known as coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, is related to uveal coloboma-cleft lip and palate-intellectual disability and amyloidosis. An important gene associated with Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Impaired Intellectual Development is YAP1 (Yes1 Associated Transcriptional Regulator). Affiliated tissues include lung, and related phenotypes are intellectual disability and hearing impairment