Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000260.4:c.721C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276900.6.1 | United Arab Emirates | Hearing impairment; Difficulty walking | Female | Yes | Patient from 'family 1' in the publication |