| Metadata | |
|---|---|
| ID | DOID:0111249 |
| Name | uveal coloboma-cleft lip and palate-intellectual disability |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/24462371 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COB1 [EXACT] coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate [EXACT] coloboma-microphthalmos syndrome [EXACT] ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation [EXACT] Uveal coloboma-cleft lip/palate-mental retardation syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |