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References OMIM Gene GeneReviews HGMD HGNC
last update : 1/02/2006
Symbol THMD
Location 9q22
Name thyroid hormone metabolism deficiency
Corresponding gene SECISBP2
Main clinical features
  • abnormal thyroid function tests, short stature and delayed bone age, with decreased DIO2 enzymatic activity in the fibroblasts
  • Genetic determination
    Function/system disorder
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense     R540Q in exon 12