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GENATLAS PHENOTYPE
last update : 28-11-2018
Symbol LAH1
Location 18q12.1
Name hypotrichosis, localized 1
Other name(s)
  • Hypotrichosis 6
  • Corresponding gene DSG4
    Other symbol(s) HTSS2, HTL, LHH, LAH, HYPT6
    Main clinical features
  • Pakistani kindreds, hypotrichosis restricted to the scalp, chest, arms, and legs, characterized by fragile, short, sparse hairs on the scalp, trunk, and extremities
  • associated to congenital scalp erosions and monilethrix-like hairs
    Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name desmogleine 4
    Remark(s)