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Ectodermal dysplasia 15, hypohidrotic/hair type

Summary

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia (van den Bogaard et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ECTD15, CST6
    Summary: cystatin E/M

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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