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Uveal coloboma-cleft lip and palate-intellectual disability

Disease definition

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.

ORPHA:1473

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q12.2
  • OMIM: 120433
  • UMLS: C0795902
  • MeSH: -
  • GARD: 1440
  • MedDRA: -
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