Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001134831.2:c.1051C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608629.3 | United Arab Emirates | Ataxia; Intellectual disability; Global developmental delay; Molar tooth sign on MRI | Unknown | Yes | Patient from 'MTI-1501' family in the publication | |
| 608629.5 | United Arab Emirates | Global developmental delay; Oculomotor apraxia; Hypotonia; Strabismus; Ataxia | Male | No | Yes | |
| 608629.6 | United Arab Emirates | Global developmental delay; Oculomotor apraxia; Hypotonia; Strabismus; Ataxia; Abnormal facial shape | Female | Yes | Yes | Has similarly affected sibling and cousin |