Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016346.4:c.131C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604485.1.1 | Saudi Arabia | Retinal dystrophy; Subretinal deposits | Female | Yes | Proband | |
| 604485.1.2 | Saudi Arabia | Retinal dystrophy; Subretinal deposits | Female | Yes | Yes | Daughter of 604485.1.1 |
| 604485.1.3 | Saudi Arabia | Retinal dystrophy; Retinoschisis; Accommodative esotropia | Female | Yes | Yes | Daughter of 604485.1.1 |
| 604485.1.4 | Saudi Arabia | Male | Yes | Asymptomatic husband and first cousin of 604485.1.1 |