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GENATLAS PHENOTYPE
last update : 31-08-2011
Symbol HEDAD
Location 1q42.3
Name ectodermal dysplasia, anhidrotic
Other name(s) ectodermal dysplasia, hypohidrotic
Corresponding gene EDARADD
Main clinical features
  • sparse hair, abnormal or missing teeth, lack of sweat glands
  • including cases of isolated oligodontia (PMID: 21626677))
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name EDAR associated DEATH domain
    Remark(s)