Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_201253.3:c.2505_2508del | 1 | |||
| NM_000330.4:c.304C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600105.4.1 | United Arab Emirates | Retinal dystrophy; Visual impairment; Exotropia; Macular atrophy; Nummular pigmentation of the fundus; Abnormal retinal vascular morphology; Cystoid macular degeneration | Male | Yes | Yes | Proband. This patient has two siblings with X-linked retinoschisis |
| 600105.4.2 | United Arab Emirates | Retinal dystrophy; Visual impairment; Marcus Gunn pupil; Cataract; Retinal detachment; Nummular pigmentation of the fundus; Cystoid macular degeneration; Abnormal retinal vascular morphology; Retinoschisis | Male | Yes | Yes | Brother of 600105.1.1. This patient has an overlapping phenotype with heterozygous CRB1 and hemizygous RS1 variant, and was confirmed with X-linked retinoschisis |
| 600105.4.4 | United Arab Emirates | Female | Yes | Mother of 600105.1.1 |