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 | |
277900.32.3 | Lebanon | Male | Yes | Sibling of 277900.31.1 | ||
277900.32.4 | Lebanon | Female | Yes | Mother of 277900.31.1 | ||
277900.32.5 | Lebanon | Female | Yes | Father of 277900.31.1 |