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Ectodermal dysplasia 15, hypohidrotic/hair type

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

1

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Genes

External Links

  • OMIM

    618535

  • Orphanet
  • HPO
  • Medgen

    C5193145

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