Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001206744.2:c.2421del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 274500.2.2 | Oman | Congenital hypothyroidism | Unknown | Yes | Yes | Sibling of 274500.2.1 |
| 274500.2.3 | Oman | Congenital hypothyroidism | Unknown | Yes | Yes | Cousin of 274500.2.1 |