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Results 1 - 10 of 12 for Congenital hypothyroidism Cretinism
  1. Congenital hypothyroidism 
    Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid ...
    https://medlineplus.gov/genetics/condition/congenital-hypothyroidism - Genetics
  2. TSHR gene 
    ... gene mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of ... hormone levels remain low, causing mild to severe congenital hypothyroidism. Impaired thyroid stimulating hormone receptors may also disrupt ...
    https://medlineplus.gov/genetics/gene/tshr - Genetics
  3. PAX8 gene 
    ... At least 15 mutations in this gene cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May; ...
    https://medlineplus.gov/genetics/gene/pax8 - Genetics
  4. DUOX2 gene 
    ... have identified several DUOX2 gene mutations that cause congenital hypothyroidism, a condition characterized by a reduction of thyroid ... thyroid hormone levels are extremely low, causing severe congenital hypothyroidism. If only one copy of the DUOX2 gene ...
    https://medlineplus.gov/genetics/gene/duox2 - Genetics
  5. TG gene 
    ... needed. Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... do not have other signs and symptoms of congenital hypothyroidism (described above). It is unclear why enlargement of ...
    https://medlineplus.gov/genetics/gene/tg - Genetics
  6. TPO gene 
    ... the cell membrane. TPO gene mutations can cause congenital hypothyroidism, a condition characterized by abnormally low levels of ... absent or reduced, leading to the features of congenital hypothyroidism. In most affected individuals, the thyroid gland is ...
    https://medlineplus.gov/genetics/gene/tpo - Genetics
  7. TSHB gene 
    ... at least 10 TSHB gene mutations involved in congenital hypothyroidism, a condition characterized by abnormally low levels of ... of a form of the condition called central congenital hypothyroidism, which occurs when stimulation of thyroid hormone production ...
    https://medlineplus.gov/genetics/gene/tshb - Genetics
  8. SLC5A5 gene 
    ... gene mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of ... of thyroid hormones. The signs and symptoms of congenital hypothyroidism associated with these gene mutations range from mild ...
    https://medlineplus.gov/genetics/gene/slc5a5 - Genetics
  9. Brain-lung-thyroid syndrome 
    ... affected individuals have reduced thyroid function from birth (congenital hypothyroidism), resulting in lower-than-normal levels of thyroid ... organs underlie benign hereditary chorea, respiratory distress syndrome, congenital hypothyroidism, and other features of brain-lung-thyroid syndrome. ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  10. SLC26A4 gene 
    ... in these tissues. MedlinePlus Genetics provides information about Congenital hypothyroidism More About This Health Condition Dozens of SLC26A4 ... causes a loss of thyroid function from birth (congenital hypothyroidism). It is unclear whether Pendred syndrome, DFNB4, and ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
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