Total 22 clinical symptoms reported for Carnitine acylcarnitine translocase deficiency
Abnormality of the musculature |
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Synonyms:Muscular abnormality |
Very frequent |
Arrhythmia |
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.
Synonyms:Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat |
Very frequent |
Cardiomyopathy |
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Synonyms:Disease of the heart muscle |
Very frequent |
Encephalopathy |
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
|
Very frequent |
Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
Hypotension |
Low Blood Pressure, vascular hypotension.
Synonyms:Arterial hypotension; Low blood pressure |
Very frequent |
Irritability |
A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Synonyms:Irritability; Irritable |
Very frequent |
Lethargy |
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Synonyms:Lethargy |
Very frequent |
Muscle weakness |
Reduced strength of muscles.
Synonyms:Muscle weakness; Muscular weakness |
Very frequent |
Respiratory insufficiency |
Synonyms:Respiratory impairment |
Very frequent |
Rhabdomyolysis |
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Synonyms:Breakdown of skeletal muscle |
Very frequent |
Ventricular tachycardia |
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
|
Very frequent |