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ectodermal dysplasia-blindness syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
Mondo Term and Equivalent IDs
MONDO:0010001:  ectodermal dysplasia-blindness syndrome
GARD:0000293: 
MESH:C535865: 
Orphanet:1806: 
UMLS:C1849332: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found