Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032119.4:c.10054-2A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605472.5.1 | United Arab Emirates | Hearing impairment; Nyctalopia | Male | Yes | Patient from 'family 4' in the publication |