uveal coloboma-cleft lip and palate-intellectual disability

Term ID

DOID:0111249

Synonyms

• COB1
• 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
• Uveal coloboma-cleft lip/palate-mental retardation syndrome

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

References

• GARD:1440
• MESH:C535971
• MIM:120433
• ORDO:1473
• UMLS_CUI:C0795902

Ontology

Human Disease   ( DOID:0111249 )