Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000237.3:c.858T>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 238600.3.1 | Morocco | Hepatosplenomegaly; Eruptive xanthomas; Lipemia retinalis; Hypertriglyceridemia; Recurrent pancreatitis; Abdominal pain; Decreased circulating lipoprotein lipase concentration; | Male | No | Yes | Proband 1 from Family 1 in the publication |
| 238600.3.3 | Morocco | Female | Yes | Mother of 238600.3.1 | ||
| 238600.3.4 | Morocco | Female | Yes | Yes | Sister of 238600.3.1 | |
| 238600.3.5 | Morocco | Female | Yes | Yes | Sister of 238600.3.1 | |
| 238600.3.6 | Morocco | Male | Yes | Yes | Brother of 238600.3.1 |