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congenital heart defects and ectodermal dysplasia

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation.
Mondo Term and Equivalent IDs
MONDO:0044303:  congenital heart defects and ectodermal dysplasia
UMLS:C4479250: