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GENATLAS PHENOTYPE
last update : 09-07-2023
Symbol ECTD3
Location 4p16.2
Name ectodermal dysplasia 3, Witkop type
Corresponding gene MSX1
Main clinical features
  • ectodermal dysplasia involving the teeth and nails with sparse or fine hair, but also affected individuals have normal hair, sweat glands, and ability to tolerate heat
  • nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia); toenails are usually more severely affected than fingernails
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Remark(s)