| 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:0000580 | Pigmentary retinopathy | |
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| HP:0000825 | Hyperinsulinemic hypoglycemia | |
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| HP:0001249 | Mental retardation | |
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| HP:0001254 | Lethargy | |
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| HP:0001270 | Motor retardation | |
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| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001325 | Hypoglycemic coma | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001985 | Hypoketotic hypoglycemia | |
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| HP:0001987 | Hyperammonemia | |
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| HP:0001998 | Neonatal hypoglycemia | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002173 | Seizures, hypoglycemic | |
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| HP:0002605 | Hepatic necrosis | |
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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:0002913 | Myoglobinuria | |
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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:0003508 | Proportionate short stature | "Short stature affecting the trunk and the limbs proportionately." [HPO:curators] |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004448 | Fulminant 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 fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
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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:0006929 | Encephalopathy, hypoglycemic | |
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| HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008283 | Hyperinsulinemia, fasting | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0012071 | Abnormality of acetylcarnitine metabolism | "An abnormality of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [HPO:probinson] |
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| HP:0030781 | Increased circulating free fatty acid level | "A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues." [HPO:probinson] |
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| HP:0030796 | Increased C-peptide level | "An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion." [HPO:probinson] |
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| HP:0100950 | Long chain 3 hydroxyacyl coA dehydrogenase deficiency | |
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