Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024649.5:c.124+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.2.1 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | "BBS-F002-A" in the publication |
| 209900.2.3 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Round face; External genital hypoplasia; Polydactyly | Male | Yes | Yes | Sibling of 209900.2.1 "BBS-F002-C" in the publication |