| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001254 | Lethargy | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001404 | Hepatocellular necrosis | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001958 | Nonketotic hypoglycemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002789 | Tachypnea | |
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| HP:0003215 | Dicarboxylic aciduria | |
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| HP:0003234 | Decreased plasma carnitine | |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003552 | Muscle stiffness | |
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| HP:0003738 | Exercise-induced myalgia | "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators] |
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| HP:0008305 | Myoglobinuria, exercise-induced | |
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| HP:0009045 | Rhabdomyolysis with exercise | |
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