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congenital hypothyroidism non-goitrous type 2 (CHNG2)
Epidemiology:
- most frequent cause of congenital hypothyroidism
- accounts for 85% of cases
Pathology:
- thyroid dysgenesis
- the thyroid gland can be completely absent (athyreosis), ectopically located &/or severely hypoplastic
- ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue
Genetics:
- associated with defects in PAX8
General
cretinism (congenital hypothyroidism)
Database Correlations
OMIM 218700
References
OMIM :accession 218700