Total 103 clinical symptoms reported for Lowe syndrome
Abnormal pupil morphology |
An abnormality of the pupil.
Synonyms:Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality |
Very frequent |
Abnormal renal tubule morphology |
An abnormality of the renal tubules.
Synonyms:Abnormality of the renal tubule; Morphologic abnormality of the renal tubules |
Very frequent |
Abnormality of the voice |
Synonyms:Abnormality of the voice; Voice abnormality |
Very frequent |
Amblyopia |
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Synonyms:Lazy eye; Wandering eye; Wandering eyes |
Very frequent |
Anxiety |
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Synonyms:Anxiety; Anxiousness; Excessive, persistent worry and fear |
Very frequent |
Areflexia |
Absence of neurologic reflexes such as the knee-jerk reaction.
Synonyms:Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes |
Very frequent |
Cataract |
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity |
Very frequent |
Depression |
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Synonyms:Depression; Depressivity |
Very frequent |
Dysphasia |
This information is currently in development.
|
Very frequent |
Glomerulopathy |
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Synonyms:Diseased glomeruli |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
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 |
Neonatal hypotonia |
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Synonyms:Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset |
Very frequent |
Nystagmus |
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Synonyms:Involuntary, rapid, rhythmic eye movements |
Very frequent |
Renal insufficiency |
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Synonyms:Renal failure; Renal failure in adulthood |
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 |