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GENATLAS PHENOTYPE
last update : 21/05/2008
Symbol WHN
Location 17q11.2
Name NUDE phenotype
Other name(s) winged helix nude
Corresponding gene FOXN1
Main clinical features
  • characterized by alopecia with complete absence of scalp hair eyebrows and eyelashes, dystrophic nails and thymus aplasia with T-cell immunodeficiency
  • Genetic determination not applicable
    Function/system disorder dermatology
    defense and immunity
    Type disease
    Remark(s) homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus