Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003384.3:c.236C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607596.2 | Saudi Arabia | Pachygyria; Dandy-Walker malformation; Abnormality of neuronal migration; Prominent nasal tip; Thin upper lip vermilion; Macrotia; Global developmental delay ; Talipes equinovarus; Scoliosis; Seizure | Female | No | Yes |