274700.5.1

Country

Yemen

HPO Terms

Congenital hypothyroidism

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Sex

Female

Family History

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003235.5:c.2276A>G	1		Thyroid Dyshormonogenesis 3

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Remarks

The authors noted that the genotype ascertained in this family "could plausibly be contributing to the phenotype, but the evidence to support a causal link was weak."

References

Nicholas et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
274700.5.2	Yemen	Congenital hypothyroidism	Female	Yes		Identical twin sibling of 274700.5.1