Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_019892.6:c.1738A>G | 6 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 213300.G.1 | Egypt | Ataxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Retinopathy; Molar tooth sign on MRI | Yes | Yes | Five Emirati patients of Omani origin from 'MTI-007' family in the publication | |
| 213300.G.4 | Egypt | Ataxia; Global developmental delay; Intellectual disability; Retinopathy; Molar tooth sign on MRI; Oculomotor apraxia; Optic disc pallor; Plagiocephaly | Yes | Yes | Four Emirati patients from 'MTI-008' family in the publication |