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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Uveal coloboma-cleft lip and palate-intellectual disability?
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