has material basis in germline mutation in YAP1 syndromic intellectual disability hereditary disease uveal coloboma-cleft lip and palate-intellectual disability https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/coloboma_ocular_with_or_without_hearing_impairment_cleft_lip_palate_and_or_impaired_intellectual_development https://www.malacards.org/card/uveal_coloboma_cleft_lip_and_palate_intellectual_disability_2 COB1 coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate MONDO:0007355 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation DOID:0111249 Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. coloboma, cleft lip/palate and intellectual disability syndrome Orphanet:1473 MESH:C535971 uveal coloboma-cleft lip and palate-intellectual disability MEDGEN:811762 GARD:0001440 UMLS:C3805432 uveal coloboma-cleft lip/palate-intellectual disability syndrome coloboma, cleft lip/palate and mental retardation syndrome uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability coloboma-microphthalmos syndrome OMIM:120433 multiple congenital anomalies/dysmorphic syndrome-intellectual disability