Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198428.3:c.2258A>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615986.1.1 | Lebanon | Reduced visual acuity; Rod-cone dystrophy; Truncal obesity; Global developmental delay; Hypodontia; Hepatic fibrosis; Postural instability | Female | No | Yes | |
| 615986.1.3 | Lebanon | Female | Mother of 615986.1.1 |