| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 17q23.3 | Congenital myopathy 22A, classic | 620351 | AR | 3 |
| Congenital myopathy 22B, severe fetal | 620369 | AR | 3 | |
| Hyperkalemic periodic paralysis | 170500 | AD | 3 | |
| Hypokalemic periodic paralysis, type 2 | 613345 | AD | 3 | |
| Myasthenic syndrome, congenital, 16 | 614198 | AR | 3 | |
| Myotonia congenita, atypical, acetazolamide-responsive | 608390 | AD | 3 | |
| Paramyotonia congenita | 168300 | AD | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q23.3 | Hyperkalemic periodic paralysis | 170500 | AD | 3 | SCN4A | 603967 |
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