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hypohidrotic ectodermal dysplasia with immune deficiency

MIM.300291 Xq28

Wednesday 26 January 2011

Hypohidrotic ectodermal dysplasia with immune deficiency, an X-linked recessive disorder, is caused by mutations in the IKK-gamma gene (IKBKG, or NEMO; MIM.300248).

Hypohidrotic ectodermal dysplasia (HED; MIM.305100) is a congenital disorder of teeth, hair, and eccrine sweat glands. It is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (MIM.129490) and autosomal recessive (MIM.224900) forms exist.


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