Definition

An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

Synonyms

Anhidrotic ectodermal dysplasia with immune deficiency
Ectodermal dysplasia, hypohidrotic, with immune deficiency

Cross References

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Child Terms

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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ectodermal dysplasia and immune deficiency

ectodermal dysplasia and immune deficiency

Associated Genes

Associated Alleles

Associated Models