Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018451.4:c.125_126del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608393.1.2 | Saudi Arabia | Overlapping toe; Hyperreflexia; Hypertonia | Male | Yes | Yes | Sibling of 608393.1.1 |
| 608393.1.3 | Saudi Arabia | Overlapping toe; Hyperreflexia; Hypertonia | Male | Yes | Yes | Sibling of 608393.1.1 |