Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

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