Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001352754.2:c.51+5G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617622.3 | Saudi Arabia | Delayed speech and language development; Ataxia; Intellectual disability | Male | No | Yes |