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contractures-ectodermal dysplasia-cleft lip/palate syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Mondo Term and Equivalent IDs
MONDO:0010531:  contractures-ectodermal dysplasia-cleft lip/palate syndrome
GARD:0001515: 
Orphanet:1484: 
SCTID:720746006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found