Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 19/06/2006
Symbol CHILD
Location Xq28
Name congenital hemidysplasia with ichthyosiform erythroderma and lim defects
Other name(s) CHILD syndrome
Corresponding gene NSDHL
Main clinical features
  • facial dysmorphy, pulmonary hypoplasia, limb defect, vertebral hypoplasia, lateralized ichthyosiform erythroderma
  • Genetic determination sex linked
    Function/system disorder connective tissue
    congenital malformation
    Type disease