Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000086.2:c.597C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204200.2.01 | Lebanon | Retinal degeneration ; Esotropia ; Confusion ; Irritability ; Sleep disturbance ; Seizure ; Dysarthria ; Cerebellar atrophy ; Cerebral atrophy | Male | Yes | Yes | |
| 204200.2.02 | Lebanon | Retinal degeneration ; Esotropia ; Confusion ; Irritability ; Sleep disturbance ; Seizure ; Dysarthria ; Cerebellar atrophy ; Cerebral atrophy | Male | Yes | Yes | Brother of 204200.2.01 |
| 204200.2.03 | Lebanon | Retinal degeneration ; Esotropia ; Confusion ; Irritability ; Sleep disturbance ; Seizure ; Dysarthria | Male | Yes | Yes | Brother of 204200.2.01 |
| 204200.2.05 | Lebanon | Retinal degeneration ; Esotropia ; Confusion ; Irritability ; Sleep disturbance ; Seizure ; Dysarthria | Female | Yes | Yes | Sister of 204200.2.01 |
| 204200.2.06 | Lebanon | Female | Yes | Yes | Unaffected sister of 204200.2.01 | |
| 204200.2.07 | Lebanon | Female | Yes | Yes | Unaffected sister of 204200.2.01 | |
| 204200.2.08 | Lebanon | Male | Yes | Yes | Unaffected brother of 204200.2.01 | |
| 204200.2.09 | Lebanon | Female | Yes | Yes | Unaffected sister of 204200.2.01 | |
| 204200.2.10 | Lebanon | Male | Yes | Unaffected father of 204200.2.01 | ||
| 204200.2.11 | Lebanon | Female | Yes | Unaffected mother of 204200.2.01 |