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GTR Home > Conditions/Phenotypes > Uveal coloboma-cleft lip and palate-intellectual disability

Uveal coloboma-cleft lip and palate-intellectual disability

Synonyms
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COB1, YAP, YAP-1, YAP2, YAP65, YKI, YAP1
    Summary: Yes1 associated transcriptional regulator

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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