Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_182961.4:c.25741dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618484.1.2 | Jordan | Hypotonia; Skeletal muscle atrophy | Male | Yes | Yes | Brother of 618484.1.1 |
| 618484.1.3 | Jordan | Hypotonia; Skeletal muscle atrophy | Male | Yes | Yes | Brother of 618484.1.1 |