uveal coloboma-cleft lip and palate-intellectual disability (Q55780435)
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An autosomal dominant disease characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has material basis in heterozygous mutation in YAP1 on 11q22.1.
- COB1
- COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION; COB1
- COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
- ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation
- coloboma-microphthalmos syndrome
- Uveal coloboma-cleft lip/palate-mental retardation syndrome
- coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
Language | Label | Description | Also known as |
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English | uveal coloboma-cleft lip and palate-intellectual disability |
An autosomal dominant disease characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has material basis in heterozygous mutation in YAP1 on 11q22.1. |
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