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| Congenital hypothyroidism v0.0 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IYD were set to 24629858 (Review); 18765512; PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families; PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation Phenotypes for gene: IYD were set to childhood/adolescent onset hypothyroidism; Thyroid dyshormonogenesis 4, 274800; normal iodide organification; Congenital hypothyroidism; raised urinary MIT and DIT; goitre |
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