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Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

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Description

A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.

NCI

  • Mode of Inheritance

    VARIANTS

    59

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM
    • Orphanet

      248

    • HPO
    • Medgen

      C0406702

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