(Q55780435)
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.
- 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
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