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frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
Mondo Term and Equivalent IDs
MONDO:0013271:  frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
GARD:0012640: 
Orphanet:306542: 
UMLS:C3150706: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found