Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018965.4:c.40+4_40+6del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605086.1.2 | Lebanon | Dementia; Severe; Young adult onset; Cerebellar cortical atrophy | Female | Yes | Yes | Sibling of 605086.1.1 |
| 605086.1.3 | Lebanon | Dementia; Severe; Young adult onset; Cerebellar cortical atrophy | Male | Yes | Yes | Sibling of 605086.1.1 |
| 605086.1.4 | Lebanon | Female | Yes | Sibling of 605086.1.1 | ||
| 605086.1.5 | Lebanon | Male | Yes | Sibling of 605086.1.1 | ||
| 605086.1.6 | Lebanon | Male | Yes | Sibling of 605086.1.1 | ||
| 605086.1.7 | Lebanon | Female | Yes | Sibling of 605086.1.1 | ||
| 605086.1.8 | Lebanon | Female | Yes | Mother of 605086.1.1 | ||
| 605086.1.9 | Lebanon | Male | Yes | Father of 605086.1.1 |