Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138691.3:c.596A>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600974.8.1 | United Arab Emirates | Profound hearing impairment | Female | Yes | Yes | |
| 600974.8.2 | United Arab Emirates | Profound hearing impairment | Female | Yes | Yes | Sibling of 600974.8.1 |