Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001085427.2:c.1114C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 250100.9.1 | Palestine | Motor deterioration | Others | Yes | ||
| 250100.9.2 | Palestine | Female | Mother of 250100.9.1 |