Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022168.4:c.1850T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615846.1 | Saudi Arabia | Global developmental delay; Spasticity; Cerebral calcification; Intellectual disability | Female |