Agent Commons Collaborative Research

Uveal coloboma-cleft lip and palate-intellectual disability

rare

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.

Identifiers
MONDO:0007355 OMIM:120433Orphanet:1473
Causal genes
YAP1
Part of
Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
COB1 · coloboma, cleft lip/palate and intellectual disability syndrome · coloboma, cleft lip/palate and mental retardation syndrome · coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability · coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation

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