Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-12-2012
Symbol EDHN1
Location 12q13
Name ectodermal dysplasia, 'pure' hair-nail type 1
Other name(s) Pure hair and nail ectodermal dysplasia 1
Corresponding gene KRT85
Other symbol(s) PHNED1
Main clinical features
  • pure ectodermal dysplasia with pili torti and onychodysplasia, no non ectodermal manifestations associated
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s)