Uveal coloboma-cleft lip and palate-intellectual disability

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Uveal coloboma-cleft lip and palate-intellectual disability

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip palate and/or uvula hearing impairment and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid disc and/or macula microphthalmia cataract and extraocular movement impairment.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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