Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024649.5:c.951+58C>T | 2 | |||
| NM_001278293.3:c.535+80A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.9.2 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia | Male | Yes | Yes | Sibling of 209900.9.1 "BBS-F026-B" in the publication |