Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001793.6:c.1182+1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225280.1.2 | Saudi Arabia | Ectrodactyly; Macular dystrophy | Male | Yes | Yes | Relative of 225280.1.1 |