Total 23 clinical symptoms reported for Cystinosis
Corneal opacity |
A reduction of corneal clarity.
Synonyms:Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye |
Very frequent |
Delayed puberty |
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Synonyms:Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Fatigue |
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Synonyms:Fatigue; Tired; Tiredness |
Very frequent |
Hypothyroidism |
Deficiency of thyroid hormone.
Synonyms:Low T4; Underactive thyroid |
Very frequent |
Motor stereotypy |
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Synonyms:Repetitive movements; Repetitive or self-injurious behavior; Stereotyped behavior; Stereotyped, repetitive behavior; Stereotyped, repetitive behaviour; Stereotypic behavior; Stereotypic behaviors; Stereotypical motor behavior; Stereotypical motor behaviors |
Very frequent |
Muscle weakness |
Reduced strength of muscles.
Synonyms:Muscle weakness; Muscular weakness |
Very frequent |
Myopathy |
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Synonyms:Muscle tissue disease; Myopathic changes |
Very frequent |
Nephrogenic diabetes insipidus |
A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).
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Very frequent |
Nephropathy |
A nonspecific term referring to disease or damage of the kidneys.
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Very frequent |
Photophobia |
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Synonyms:Extreme sensitivity of the eyes to light; Light hypersensitivity |
Very frequent |
Polydipsia |
Excessive thirst manifested by excessive fluid intake.
Synonyms:Extreme thirst |
Very frequent |
Renal tubular dysfunction |
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Synonyms:Abnormal function of filtrating structures in kidney; Renal tubular defect |
Very frequent |
Short stature |
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
Vomiting |
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Synonyms:Emesis; Throwing up; Vomiting |
Very frequent |