Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_201253.3:c.2505_2508del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
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 |
600105.4.3 | United Arab Emirates | Retinal dystrophy; Visual impairment; Strabismus; Retinoschisis | Female | Yes | Yes | Sister of 600105.1.1. This patient has heterozygous CRB1 and homozygous RS1 variant, and was confirmed with X-linked retinoschisis |
600105.4.4 | United Arab Emirates | Female | Yes | Mother of 600105.1.1 |