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Results 1 - 8 of 8 for congenital hypothyroidism
  1. Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid ...
  2. ... 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. ...
  3. ... syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. ...
  4. ... a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene. ... Mutations in the SLC26A4 gene cause ...
  5. ... the mouth (cleft palate), an underactive thyroid gland (hypothyroidism), heart abnormalities that are present from birth (congenital heart defects), kidney problems, genital abnormalities, and skin ...
  6. ... that produces hormones. This gland is commonly underactive (hypothyroidism) in individuals with this disorder, but may become ... syndromes. Autoimmunity-immunodeficiency syndrome, X-linked Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea Diarrhea, polyendocrinopathy, ...
  7. ... tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal ...
  8. ... with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ ... on PubMed Shapiro BL. Down syndrome and associated congenital malformations. J Neural Transm Suppl. 2003;(67):207- ...