Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000053.3:c.2817G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277900.32.1 | Lebanon | Hepatosplenomegaly; Cirrhosis; Ascites; Excessive salivation; Intention tremor; Slurred speech | Yes | Yes | Has affected deceased sibling, not genotyped | |
| 277900.32.2 | Lebanon | Female | Yes | Sibling of 277900.31.1 | ||
| 277900.32.3 | Lebanon | Male | Yes | Sibling of 277900.31.1 | ||
| 277900.32.4 | Lebanon | Female | Yes | Mother of 277900.31.1 |