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 |
|---|---|---|---|---|---|---|
| 600151.4.1 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | Yes | Yes | "BBS-F018-A" in the publication |
| 600151.4.2 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 600151.4.1 "BBS-F018-B" in the publication |