Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001793.6:c.307C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 225280.2.1 | Saudi Arabia | Rod-cone dystrophy; Abnormal facial shape; Ectrodactyly | Male | Yes | Yes |