Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000168.6:c.2432-1G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 146510.1.2 | Saudi Arabia | Seizure; Polydactyly; High palate; Poor suck | Male | Yes | No | Relative of 146510.1.1 |