Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000263.4:c.889C>T | 8 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 252920.G.1 | Saudi Arabia | Hepatosplenomegaly; Coarse facial features; Hyperactivity; Aggressive behavior | Yes | Yes | 3 blood relatives from one Emirati tribe and an unrelated patient from a different Emirati tribe |