Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000053.4:c.2304dup | 1 | |||
| NM_000053.4:c.3007G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277900.34.1 | Lebanon | Hepatomegaly ; Decreased circulating ceruloplasmin concentration | Female | Yes | Yes | |
| 277900.34.2 | Lebanon | Slurred speech ; Ataxia ; Tremor ; Arthralgia ; Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration | Male | Yes | No | Relative of 277900.34.1 |
| 277900.34.3 | Lebanon | Cirrhosis ; Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration ; Death in early adulthood | Male | Yes | No | Relative of 277900.34.1 |
| 277900.34.4 | Lebanon | Cirrhosis ; Arthropathy ; Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration | Female | Yes | No | Relative of 277900.34.1 |
| 277900.34.6 | Lebanon | Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration | Female | Yes | Yes | Relative of 277900.34.1 |
| 277900.34.7 | Lebanon | Hepatomegaly ; Decreased circulating ceruloplasmin concentration | Female | Yes | Yes | Relative of 277900.34.1 |
| 277900.34.8 | Lebanon | Choreoathetosis ; Tremor ; Rigidity ; Kayser-Fleischer ring | Male | Yes | No | Relative of 277900.34.1 |
| 277900.34.9 | Lebanon | Decreased circulating ceruloplasmin concentration ; Hepatic steatosis | Male | Yes | Yes | Relative of 277900.34.1 |