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congenital hypothyroidism due to dyshormonogenesis type 1
See cretinism (congenital hypothyroidism)
Genetics:
- associated with defects in SLC5A5 are the cause of congenital hypothyroidism due to dyshormonogenesis type 1
Pathology:
- inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma & the thyroid gland
General
cretinism (congenital hypothyroidism)
Database Correlations
OMIM 274400
References
OMIM :accession 274400