Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_033028.5:c.1180C>T | 2 | |||
| NM_176824.3:c.529-99T>A | 1 | |||
| NM_024649.5:c.1684G>A | 1 | |||
| NM_198428.3:c.1693+102G>A | 1 | |||
| NM_031885.5:c.940+36G>A | 1 | |||
| NM_144596.4:c.710+75G>C | ||||
| NM_017777.4:c.262-27A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615982.3 | Saudi Arabia | Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | No | Yes | "BBS-F013-A" in the publication |
| 615982.4 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia | Male | No | Yes | "BBS-F017-A" in the publication |