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Hypothyroidism due to TSH receptor mutations

Disease definition

A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

ORPHA:90673

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E03.1
  • OMIM: 275200
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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