Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_033028.4:c.157-2A>G | 2 | |||
| NM_198428.3:c.1546C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615982.5.1 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Male | Yes | Yes | "BBS-arRP-F026-A" in the publication |
| 615982.5.2 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Male | Yes | Yes | Sibling of 615982.5.1 "BBS-arRP-F026-B" in the publication |
| 615982.5.3 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Male | Yes | Yes | Sibling of 615982.5.1 "BBS-arRP-F026-C" in the publication |