- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: IEA. (OMIM:231530)
- 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: TAS. (OMIM:231530)
- Hypoglycemic seizures (HP:0002173). Evidence: IEA. (OMIM:231530)
- Hypoglycemic encephalopathy (HP:0006929): Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. Evidence: IEA. (OMIM:231530)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:231530)
- Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950). Evidence: IEA. (OMIM:231530)
- 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: IEA. (OMIM:231530)
- Hepatic necrosis (HP:0002605): The presence of cell death (necrosis) affecting the liver. Evidence: IEA. (OMIM:231530)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: IEA. (OMIM:231530)
- 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: TAS. (OMIM:231530)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: IEA. (OMIM:231530)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:231530)
- Dicarboxylic aciduria (HP:0003215): An increased concentration of dicarboxylic acid in the urine. Evidence: IEA. (OMIM:231530)
- Fulminant hepatic failure (HP:0004448): 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. Evidence: IEA. (OMIM:231530)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: IEA. (OMIM:231530)
- Hypoketotic hypoglycemia (HP:0001985): A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. Evidence: IEA. (OMIM:231530)
These phenotypes are associated with the disease 3-hydroxyacyl-CoA dehydrogenase deficiency (OMIM:231530).