Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001278293.3:c.480-1700_535+2392del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600151.3.1 | Saudi Arabia | Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | Yes | Yes | "BBS-F004-A" in the publication |
| 600151.3.2 | Saudi Arabia | Obesity; Specific learning disability; Rod-cone dystrophy; Round face | Female | Yes | Yes | Sibling of 600151.3.1 "BBS-F004-B" in the publication |
| 600151.3.3 | Saudi Arabia | Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 600151.3.1 "BBS-F004-C" in the publication |
| 600151.3.4 | Saudi Arabia | Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 600151.3.1 "BBS-F004-D" in the publication |