Male
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 | 1 |
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 |
600105.4.3 | 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 |