- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: IEA. (OMIM:231680)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:231680)
- Elevated circulating glutaric acid concentration (HP:0003530): An increased concentration of glutaric acid in the blood. Evidence: IEA. (OMIM:231680)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. (OMIM:231680)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:231680)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:231680)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: IEA. (OMIM:231680)
- Glutaric aciduria (HP:0003150): The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 14/14. (PMID:19249206;OMIM:231680)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: PCS. (PMID:32550677)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: IEA. (OMIM:231680)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: IEA. (OMIM:231680)
- Elevated urinary 5-hydroxyhexanoic acid level (HP:0025734): The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:32550677)
- Hepatic periportal necrosis (HP:0002614): A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. Evidence: IEA. (OMIM:231680)
- Proximal tubulopathy (HP:0000114): Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. Evidence: IEA. (OMIM:231680)
- Pachygyria (HP:0001302): Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: IEA. (OMIM:231680)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: IEA. (OMIM:231680)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:231680)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: IEA. (OMIM:231680)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: IEA. (OMIM:231680)
- Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647): A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. Evidence: IEA. (OMIM:231680)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: IEA. (OMIM:231680)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:231680)
- Hypoglycemic coma (HP:0001325): Coma induced by low blood sugar. Evidence: IEA. (OMIM:231680)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: PCS. Frequency: 2/4. (PMID:19249206)
- Acidosis (HP:0001941): Abnormal acid accumulation or depletion of base. Evidence: IEA. (OMIM:231680)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/4. (PMID:19249206)
- Intermittent diarrhea (HP:0002254): Repeated episodes of diarrhea separated by periods without diarrhea. Evidence: PCS. Frequency: 2/4. (PMID:19249206)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:231680)
- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: IEA. (OMIM:231680)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: IEA. (OMIM:231680)
- Elevated urine 3-methyladipic acid level (HP:6000466): The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 1/4. (PMID:19249206)
- Gliosis (HP:0002171): Gliosis is the focal proliferation of glial cells in the central nervous system. Evidence: IEA. (OMIM:231680)
- Elevated urine suberic acid level (HP:0033213): The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 3/4. (PMID:19249206)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:231680)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/4. (PMID:19249206)
- Generalized aminoaciduria (HP:0002909): An increased concentration of all types of amino acid in the urine. Evidence: IEA. (OMIM:231680)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: IEA. (OMIM:231680)
- Renal cortical cysts (HP:0000803): Cysts of the cortex of the kidney. Evidence: IEA. (OMIM:231680)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. (PMID:32550677)
- Methylmalonic aciduria (HP:0012120): Increased concentration of methylmalonic acid in the urine. Evidence: PCS. Frequency: 1/4. (PMID:19249206)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: IEA. (OMIM:231680)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: IEA. (OMIM:231680)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:231680)
- Ethylmalonic aciduria (HP:0003219): The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: IEA. (OMIM:231680)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:231680)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 1/4. (PMID:19249206)
These phenotypes are associated with the disease multiple acyl-CoA dehydrogenase deficiency (OMIM:231680).