No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004004.5:c.506G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220290.G.11.1 | United Arab Emirates | Severe hearing impairment; Profound hearing impairment | Yes | Yes | 3 siblings (2 male, 1 female) with a molecular diagnosis. One additional affected deceased sibling and step-aunt exhibited hearing impairment. |