Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_033028.4:c.157-2A>G | 2 | |||
| NM_025114.4:c.2963A>C | 1 | |||
| NM_198428.3:c.1432+47T>A | 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 |
| 615982.6 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia; Hearing impairment | Male | No | Yes | "BBS-F031-A" in the publication |