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GENATLAS PHENOTYPE
last update : 05-12-2012
Symbol EDHN3
Location 12q13.13
Name ectodermal dysplasia, 'pure' hair-nail type 3
Other name(s) ectodermal dysplasia 9, hair/nail type
Corresponding gene HOXC13
Other symbol(s) ECTD9
Main clinical features
  • hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations
  • congenital atrichia and severe nail dystrophy
  • histopathological examination of scalp skin of the index individual showed an apparently reduced number of hair follicles with disorganized hair shafts lacking the normal layered structure
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s)