| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0001663 | Ventricular fibrillation | |
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| HP:0001695 | Cardiac arrest | |
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| HP:0002203 | Respiratory paralysis | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003694 | Proximal muscle weakness occurs later | "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] |
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| HP:0003752 | Flaccid weakness or paralysis, episodic attacks | |
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| HP:0008153 | Periodic hypokalemic paresis | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008256 | Adrenocortical adenoma | "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] |
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| HP:0009020 | Exercise-induced muscle fatigue | "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] |
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| HP:0011998 | Postprandial hyperglycemia | "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." [HPO:probinson] |
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| HP:0012240 | Increased intramyocellular lipid droplets | "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] |
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| HP:0012251 | ST segment elevation | "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson] |
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| HP:0012726 | Episodic hypokalemia | "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson] |
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| HP:0030196 | Fatigable weakness of respiratory muscles | "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] |
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