Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024649.5:c.951+58C>T | 2 | |||
| NM_031885.5:c.940+96T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.6.2 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Abnormality of the kidney; Round face; External genital hypoplasia | Male | Yes | Yes | Sibling of 209900.6.1 "BBS-F014-A" in the publication |