Myoclonic Dystonia 11(Alcohol-responsive dystonia) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neuromuscular 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 | SGCE/8910 | sarcoglycan epsilon | 7q21.3 | Chr7, NC_000007.14 (94584980..94656133, complement) |
71154 nt | 16 | 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 | ||||||||
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Clinical Symptoms & Disabilities