Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006397.2:c.557G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610333.1 | United Arab Emirates | Global developmental delay; Microcephaly; Dystonia | Male | Yes | Yes | Affected sister |