" /> Hypothyroidism, congenital, nongoitrous, 6 - CISMeF





Preferred Label : Hypothyroidism, congenital, nongoitrous, 6;

Symbol : CHNG6;

CISMeF acronym : CHNG6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 subunit of the thyroid hormone receptor gene (THRA, 190120.0001);

Laboratory abnormalities : Slightly elevated cholesterol; Slightly elevated creatine kinase;

Prefixed ID : #614450;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.