Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024685.4:c.728_731del | 1 | |||
| NM_024685.4:c.1892_1896del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615987.4 | Saudi Arabia | Obesity; Rod-cone dystrophy; Polydactyly; Round face | Female | No | Yes | "BBS-F011-A" in the publication |
| 615987.5 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | No | Yes | "BBS-F023-A" in the publication |