uveal coloboma-cleft lip and palate-intellectual disability
ORPHA: 1473
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with uveal coloboma-cleft lip and palate-intellectual disability, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentChorioretinal colobomaMicrophthalmiaIris colobomaHematuriaIntellectual disabilityStrabismusGlaucomaVisual impairmentPtosisCataractRetinal detachmentPosterior embryotoxonNystagmusOptic atrophyCorneal opacity
Classification & Codes
Orphanet Code
ORPHA:1473uveal coloboma-cleft lip and palate-intellectual disability
| Orphanet | ORPHA:1473 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO