Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001278293.3:c.431C>T | 2 | |||
| NM_024685.4:c.-52C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600151.2.1 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Male | Yes | Yes | "BBS-F003-A" in the publication |
| 600151.2.2 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 600151.2.1 "BBS-F003-B" in the publication |
| 600151.2.3 | Saudi Arabia | Obesity; Rod-cone dystrophy; Hearing impairment; Round face; Hepatic steatosis | Male | Yes | Yes | Sibling of 600151.2.1 "BBS-F003-C" in the publication |
| 600151.2.5 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 600151.2.1 "BBS-F003-E" in the publication |