Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022168.3:c.961G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615846.2 | Arab | Spasticity; Microcephaly; Motor delay; Hypotonia; Delayed speech and language development | Female | de novo mutation |