Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006017.3:c.2130+2del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612095.1.2 | Saudi Arabia | Rod-cone dystrophy | Male | Yes | Heterozygous, less severely affected son of 612095.1.1 |