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GENATLAS PHENOTYPE
last update : 22-02-2016
Symbol SSPS
Location 2q35
Name Schopf-Schulz-Passarge syndrome
Corresponding gene WNT10A
Main clinical features
  • ectodermal dysplasia, keratosis palmoplantaris with hypodontia, hypotrichosis, and cysts of the eyelids, isolated
  • broad continuum of phenotypes, ranging from apparently isolated severe oligodontia with only very mild other ED symptoms, to several “variants” of OODD with or without facial skin erythema, palmoplantar hyperkeratosis, or nail dysplasia
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s)