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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 01-04-2020
Symbol HTDI3
Location 15q21.1
Name congenital hypothyroidism with defects in iodide organification 3
Corresponding gene DUOX1 , DUOXA1
Main clinical features
  • congenital hypothyroidism with goiter
  • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Remark(s) . DUOX1/DUOXA1 system, when genetically defective, can cause congenital hypothyroidism (PMID: 31428054))