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.6011+160G>A | 1 | |||
| NM_031885.5:c.1080+149G>A | 1 | |||
| NM_031885.5:c.718-34G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615982.4 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia | Male | No | Yes | "BBS-F017-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 |