Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_174878.3:c.301_305del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
276902.1.2 | Lebanon | Rod-cone dystrophy; Profound hearing impairment | Male | Yes | No | Brother of 276902.1.1 |
276902.1.3 | Lebanon | Female | Yes | Unaffected maternal grandmother of 276902.1.1 | ||
276902.1.4 | Lebanon | Male | Yes | Unaffected father of 276902.1.1 | ||
276902.1.5 | Lebanon | Female | Yes | Unaffected mother of 276902.1.1 | ||
276902.1.6 | Lebanon | Female | Yes | No | Unaffected sister of 276902.1.1 | |
276902.1.7 | Lebanon | Female | Yes | No | Unaffected sister of 276902.1.1 | |
276902.1.8 | Lebanon | Male | Yes | No | Unaffected brother of 276902.1.1 | |
276902.1.9 | Lebanon | Male | Yes | No | Unaffected brother of 276902.1.1 |