chromosome
gene symbol
phenotype
Scapuloperoneal spinal muscular atrophy -SPSMAWNK lysine deficient protein kinase 1
neuropathy, hereditary sensory and autonomic, type iia -HSAN2plakophilin 2
Arrhythmogenic right ventricular dysplasia, 9 -ARDV9Spastic paraplegia 26 -SPG26actin-filament binding protein Frabin
Charcot-Marie-Tooth neuropathy Type 4H -CMT4Hpotassium voltage-gated channel, shaker-related subfamily, member 1
Episodic ataxia with myokymia -EA1ataxia, spastic, 1, autosomal dominant -SPAX1potassium voltage-gated channel, shaker-related subfamily, member 5
atrial fibrillation, familial -ATFB7calcium channel, voltage-dependent, L type, alpha 1C subunit
timothy syndrome -LQT8brugada syndrome 3 -contactin-1
congenital lethal myopathy -kinesin family member 21A
Fibrosis of extraocular muscles, congenital, 1 -CFEOM1Charcot-Marie-Tooth neuropathy Type 2G -CMT2Gintegrin alpha 7 precursor
Myopathy, congenital -ITGA7v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
lethal congenital contracture syndrome 2 -LCCS2kinesin family member 5A
Spastic paraplegia 10 -SPG10phosphofructokinase, muscle
Glycogen storage disease VII -PFKMlamina-associated polypeptide 2
Cardiomyopathy, dilated, 1T -CMT1TCharcot-Marie-Tooth neuropathy Type 2C -CMT2CSpinal muscular atrophy, congenital benin, with contractures -SMALSpinal muscular atrophy congenital non progressive of lower limbs -SMALmyosin light chain 2
Cardiomyopathy, hypertrophic, mid-left ventricular chamber type -MYL2ataxin 2
Spinocerebellar ataxia 2 -SCA2Olivopontocerebellar atrophy II -OPCAiron-sulfur cluster scaffold homolog (E. coli)
myopathy with lactic acidosis, hereditary -HMLmyopathy with deficiency of succinate dehydrogenase and aconitase -myopathy with exercise intolerance, swedish type -heat shock 27kDa protein 8
Neuropathy, distal hereditary motor, type II -HMN2Charcot-Marie-Tooth neuropathy Type 2L -CMT2L