Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018965.4:c.40+4_40+6del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
605086.1.1 | Lebanon | Dementia; Severe; Young adult onset; Cerebellar cortical atrophy | Female | Yes | Yes | |
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 | ||
605086.1.6 | 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 |