GTR Home > Conditions/Phenotypes > Hypohidrotic ectodermal dysplasia with immune deficiency

Summary

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

Genes See tests for all associated and related genes

  • Also known as: AMCBX1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, ZC2HC9, IKBKG
    Summary: inhibitor of nuclear factor kappa B kinase subunit gamma

Clinical features

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