Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003235.5:c.2276A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 274700.5.1 | Yemen | Congenital hypothyroidism | Female | Yes | 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." |