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Autosomal recessive hypohidrotic ectodermal dysplasia
rareA 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.
- Identifiers
- MONDO:0016619 Orphanet:248
- Also known as
- anhidrotic ectodermal dysplasia, autosomal recessive · AR-HED · autosomal recessive anhidrotic ectodermal dysplasia · hypohidrotic ectodermal dysplasia autosomal recessive · hypohidrotic ectodermal dysplasia, autosomal recessive
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