Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001134831.2:c.1328T>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608629.2 | Saudi Arabia | Ataxia; Intellectual disability; Global developmental delay; Molar tooth sign on MRI | Unknown | Yes | Patient from 'JS_A' family in the publication | |
| 608629.3 | Saudi Arabia | Ataxia; Intellectual disability; Global developmental delay; Molar tooth sign on MRI | Unknown | Yes | Patient from 'MTI-1501' family in the publication | |
| 608629.5 | Saudi Arabia | Global developmental delay; Oculomotor apraxia; Hypotonia; Strabismus; Ataxia | Male | No | Yes |