uveal coloboma-cleft lip and palate-intellectual disability

info · Syndrome

A syndrome 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.

Signs and symptoms

Intellectual disability
Hearing impairment
Iris coloboma
Chorioretinal coloboma
Microphthalmia
Hematuria
Cataract
Cleft palate
Cleft upper lip

Also known as: COB1; Uveal coloboma-cleft lip/palate-mental retardation syndrome; coloboma-microphthalmos syndrome; coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate; ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation