All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00736 - myotonia congenita, atypical, acetazolamide-responsive 608390 AD 11 4 SCN4A - -
00737 CMS16 myasthenic syndrome, congenital, type 16, acetazolamide-responsive 614198 AR - - SCN4A - -
07118 CMYO22A myopathy, congenital, type 22A 620351 AR - - SCN4A - -
07119 CMYO22B myopathy, congenital, type 22B 620369 AR - - SCN4A - -
01500 HOKPP paralysis, hypokalemic, periodic (HOKPP) - - 13 14 CACNA1S, SCN4A - -
00738 HOKPP2 paralysis, hypokalemic, periodic, type 2 (HOKPP-2) 613345 AD - - SCN4A - autosomal dominant
00734 HYPP paralysis, periodic, hyperkalemic (HYPP) 170500 AD 8 8 SCN4A - autosomal dominant
00735 PMC paramyotonia congenita (von Eulenburg) 168300 AD 94 93 SCN4A - -
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