Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001085427.2:c.292_293delTCinsCT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250100.10.1 | Palestine | Motor deterioration | Yes | |||
| 250100.10.2 | Palestine | Unaffected | Female | Mother of 250100.10.1 |