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uveal coloboma-cleft lip and palate-intellectual disability

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.
Uniprot Description An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest mental retardation of varying degree and/or sensorineural, mid-frequency hearing loss.
Mondo Term and Equivalent IDs
MONDO:0007355:  uveal coloboma-cleft lip and palate-intellectual disability
DOID:0111249: 
GARD:0001440: 
MESH:C535971: 
Orphanet:1473: 
UMLS:C0795902: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found