Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_025114.4:c.5668G>T | 3 | NA | ||
| NM_025114.4:c.5932C>T | 3 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610188.G.2 | United Arab Emirates | Intellectual disability, severe; Hypotonia | Male | Yes | Yes | 3 male members of a family |