Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001134831.2:c.1922T>A | 1 | NA | ||
| NM_015631.6:c.1437G>C | NA | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608629.4.1 | Syria | Ataxia; Intellectual disability; Molar tooth sign on MRI | Female | No | Patient from 'JS_B' family in the publication |