Juvenile Retinoschisis(X-linked retinoschisis) Explore Disorder's Alias
An X-linked dominant mode(s) within the Eye disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Eye disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | RS1/6247 | retinoschisin 1 | Xp22.13 | ChrX, NC_000023.11 (18639688..18672108, complement) |
32421 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |