Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024685.4:c.728_731del | 2 | |||
| NM_031885.5:c.1207C>T | 1 | |||
| NM_198428.3:c.1432+47T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615987.6.1 | Saudi Arabia | Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Intellectual disability; Hydrometrocolpos | Female | Yes | Yes | "BBS-F029-A" in the publication |
| 615987.6.3 | Saudi Arabia | Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Intellectual disability; Hydrometrocolpos; External genital hypoplasia | Male | Yes | Yes | Sibling of 615987.6.1 "BBS-F029-C" in the publication |