- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:232300)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:232300)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- 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:232300)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:232300)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 11/11. (PMID:33082562;PMID:31467850)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Elevated urine glucose tetrasaccharide level (HP:6001008): The amount of glucose tetrasaccharide in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:20301438)
- Right axis deviation (HP:0033567): A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Diaphragmatic paralysis (HP:0006597): The presence of a paralyzed diaphragm. Evidence: TAS. (OMIM:232300)
- Firm muscles (HP:0003725): A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement). Evidence: IEA. (OMIM:232300)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. (OMIM:232300)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: IEA. (OMIM:232300)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: IEA. (OMIM:232300)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:232300)
- 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: 1/1. (PMID:35386406)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Reduced muscle alpha-1,4-glucosidase activity (HP:6000088): Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal. Evidence: TAS. (OMIM:232300)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: IEA. (OMIM:232300)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:232300)
- Shortened PR interval (HP:0005165): Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. Evidence: TAS. (OMIM:232300)
- Difficulty descending stairs (HP:0033235): Reduced ability to desscend stairs. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Abnormal CNS myelination (HP:0011400): An abnormality of myelination of nerves in the central nervous system. Evidence: TAS. (OMIM:232300)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:232300)
- Sinus tachycardia (HP:0011703): Heart rate of greater than 100 beats per minute. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Increased muscle glycogen content (HP:0009051): An increased amount of glycogen in muscle tissue. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Elevated circulating NT-proBNP concentration (HP:0031185): The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- Wolff-Parkinson-White syndrome (HP:0001716): A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. Evidence: IEA. (OMIM:232300)
- Elevated circulating CK-MB concentration (HP:0032232): The concentration of CK-MB (= creatine kinase MB) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:35386406)
- 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:232300)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. (OMIM:232300)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:232300)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: IEA. (OMIM:232300)
These phenotypes are associated with the disease glycogen storage disease due to acid maltase deficiency, infantile onset (OMIM:232300).