GenTIGSA Gene Database on Rare Genetic Disorders
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Myoclonic Dystonia 11  
Disease Aliases (18)

Alcohol-responsive dystonia

Dyt-sgce

Dyt11

Dystonia, alcohol-responsive

Dystonia, alcohol responsive

Dystonia-11, myoclonic

Hereditary essential myoclonus

Myoclonus, hereditary essential

Myoclonus-dystonia

Myoclonus-dystonia syndrome

Sgce myoclonus-dystonia syndrome

Dystonia 11, myoclonic

Dystonia with myoclonus

Myoclonic dystonia 11

Myoclonic dystonia type 11

Myoclonus-dystonia syndrome caused by mutation in sgce

Associated Genes (4)
 

NCBI-RefSeq:  SGCE   (Sarcoglycan epsilon)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DRD2   (Dopamine receptor D2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KCTD17   (Potassium channel tetramerization domain containing 17)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TOR1A   (Torsin family 1 member A)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Myoclonic dystonia 11 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations