Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000441.2:c.1150G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 274600.3.1 | United Arab Emirates | Hearing impairment; Hypothyroidism | Female | Yes | Yes | Proband |
| 274600.3.2 | United Arab Emirates | Hearing impairment; Hypothyroidism | Male | Yes | Yes | Sibling of proband |
| 274600.3.3 | United Arab Emirates | Hearing impairment; Hypothyroidism | Male | Yes | Yes | Sibling of proband |
| 274600.3.5 | United Arab Emirates | Male | Father of proband | |||
| 274600.3.G | United Arab Emirates | Unknown | Yes | Five siblings heterozygous for the variant |