Duane Retraction Syndrome(Duane syndrome) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive 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 | CHN1/1123 | chimerin 1 | 2q31.1 | Chr2, NC_000002.12 (174798809..175005381, complement) |
206573 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | MAFB/9935 | MAF bZIP transcription factor B | 20q12 | Chr20, NC_000020.11 (40685848..40689236, complement) |
3389 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |