Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032146.5:c.68T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600151.1.1 | Lebanon | Rod-cone dystrophy; Truncal obesity; Global developmental delay; Hypodontia; Cataract; Brachydactyly; Syndactyly; Clinodactyly; Hepatic fibrosis; Postural instability | Male | Yes | Yes | |
| 600151.1.2 | Lebanon | Rod-cone dystrophy; Truncal obesity; Global developmental delay; Polydactyly; Astigmatism; Brachydactyly; Syndactyly; Clinodactyly; Postural instability | Female | Yes | Yes | Sister of 600151.1.1 |