Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003235.4:c.3433+3_3433+6del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 274700.4.1 | Somalia | 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." | |
| 274700.4.3 | Somalia | Congenital hypothyroidism | Male | Yes | Brother of 274700.4.1 |