" /> Hypothyroidism, congenital, nongoitrous, 5 - CISMeF





Preferred Label : Hypothyroidism, congenital, nongoitrous, 5;

Symbol : CHNG5;

CISMeF acronym : CHNG5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the E homolog of the Drosophila NK2 transcription factor (NKX2E, 600584.0004);

Laboratory abnormalities : Decreased free T(3)/free T(4); Increased TSH;

Prefixed ID : #225250;

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28/07/2025


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