Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025114.4:c.5668G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610188.G.1 | Syria | Ataxia; Molar tooth sign on MRI; Global developmental delay; Hypotonia | Unknown | No | Three patients from 'MTI_1001' family in the publication |