| 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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001297 | Stroke | |
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| HP:0001298 | Encephalopathy | |
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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:0001399 | Hepatic failure | |
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| HP:0001414 | Microvesicular steatosis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001958 | Nonketotic hypoglycemia | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| HP:0002181 | Cerebral edema | "Abnormal accumulation of fluid in the brain." [HPO:curators] |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| HP:0003215 | Dicarboxylic aciduria | |
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| HP:0003234 | Decreased plasma carnitine | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0003546 | Exercise intolerance | |
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| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
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| HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
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| HP:0008331 | Elevated creatine kinase after exercise | |
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| HP:0011695 | Cerebellar hemorrhage | "`Hemorrhage` (MPATH:119) into the parenchyma of the cerebellum." [HPO:probinson] |
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| HP:0011923 | Decreased activity of mitochondrial complex I | "A reduction in the activity of the `mitochondrial respiratory chain complex I` (GO:0005747), which is part of the electron transport chain in mitochondria." [HPO:probinson] |
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| HP:0025435 | Increased lactate dehydrogenase activity | "An elevated activity of the enzyme lactate dehydrogenase in serum." [] |
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| HP:0045045 | Elevated plasma acylcarnitine levels | |
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