Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001101.3:c.217C>G | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 243310.1 | Arab | Global developmental delay; Abnormal facial shape; Intellectual disability; Delayed speech and language development; Autistic behavior | Female | No | Yes | de novo mutation |