Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001297764.2:c.497-2del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276904.1.1 | Lebanon | Profound hearing impairment; Blindness | Female | Yes | Yes | |
| 276904.1.2 | Lebanon | Profound hearing impairment; Blindness | Female | Yes | Yes | Sister of 276904.1.1 |
| 276904.1.4 | Lebanon | Male | Yes | Unaffected father of 276904.1.1 | ||
| 276904.1.5 | Lebanon | Female | Yes | Unaffected mother of 276904.1.1 | ||
| 276904.1.6 | Lebanon | Male | Yes | Unaffected brother of 276904.1.1 | ||
| 276904.1.7 | Lebanon | Female | Yes | Unaffected sister of 276904.1.1 | ||
| 276904.1.8 | Lebanon | Female | Yes | Unaffected sister of 276904.1.1 |