GenTIGSA Gene Database on Rare Genetic Disorders
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Congenital Myotonia, Autosomal Dominant Form  
Disease Aliases (33)

Batten turner congenital myopathy

Batten-turner congenital myopathy

Becker disease

Becker generalized myotonia

Congenital myotonia, autosomal dominant form

Disease, becker

Disease, thomsen

Disease, thomsen's

Disease, thomsens

Generalized myotonia

Generalized myotonia of becker

Generalized myotonia of thomsen

Generalized myotonia, becker

Generalized myotonias

Myopathy, congenital

Myotonia congenita, autosomal dominant

Myotonia congenita, autosomal recessive

Myotonia levior

Myotonia congenita

Myotonia congenita - autosomal dominant form

Myotonia congenita autosomal dominant

Myotonia, becker generalized

Myotonia, generalized

Myotonia, generalized, becker

Myotonias, generalized

Thd

Thomsen disease

Thomsen generalized myotonia

Thomsen and becker disease

Thomsen myotonia congenita

Thomsen's disease

Thomsens disease

Associated Genes (1)
 

NCBI-RefSeq:  CLCN1   (Chloride voltage-gated channel 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Congenital myotonia, autosomal dominant form OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations