Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_019892.6:c.1688G>A | 8 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 213300.G.1 | United Arab Emirates | 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.3 | United Arab Emirates | Ataxia; Global developmental delay; Intellectual disability; Oculomotor apraxia; Molar tooth sign on MRI; Elevated hepatic transaminase; Hepatic fibrosis | Yes | Yes | Three Egyptian patients from 'MTI-627' family in the publication |