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| Congenital hypothyroidism v0.0 | SOX3 |
Zornitza Stark gene: SOX3 was added gene: SOX3 was added to Congenital hypothyroidism. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SOX3 were set to 15800844; 12428212; 26416826 (2015 review) Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, MONDO:0010712; Panhypopituitarism, X-linked, OMIM:312000; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 |
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