Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_176824.3:c.602-2A>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615984.2.1 | Saudi Arabia | Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | Yes | Yes | "BBS-F012-A" in the publication |
| 615984.2.3 | Saudi Arabia | Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | Yes | Sibling of 615984.2.1 "BBS-F012-C" in the publication |