Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024649.5:c.124+1G>A | 1 | |||
| NM_024649.5:c.951+58C>T | 1 | |||
| NM_033028.4:c.221-37G>A | 1 | |||
| NM_152384.3:c.132T>G | 1 | |||
| NM_025114.4:c.6271-113T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 209900.4.2 | Saudi Arabia | Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face | Female | Yes | No | Sibling of 209900.4.1 "BBS-F009-B" in the publication |