Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000263.4:c.934G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 252920.1.G.1 | Jordan | Unknown | Yes | Parents and and a healthy sibling of 252920.1.1 |