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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24-08-2020
Symbol CHNG8
Location Xp22.3
Name hypothyroidism, congenital, nongoitrous, 8
Corresponding gene TBL1X
Main clinical features
  • relatively mild central hypothyroidism, which may be accompanied by hearing loss
  • short stature, macrocephaly, increased weight, fatigue, difficulty concentrating, and secondary amenorrhea
  • Genetic determination sex linked
    Function/system disorder endocrinology
    ear
    Type disease
    Remark(s)