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GENATLAS PHENOTYPE

last update : 23-06-2020

Symbol	CHNG5
Location	5q35.1
Name	hypothyroidism, congenital nongoitrous, 5
Corresponding gene	NKX2-5
Main clinical features	characterized by normal-to-low T4 and normal-to-high thyrotropin (TSH) levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone (TRH); short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue
Genetic determination	autosomal dominant
Function/system disorder	endocrinology
Type	disease

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