Total 29 clinical symptoms reported for Sialidosis type 2
Abnormal macular morphology |
A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.
Synonyms:Abnormality of the macula; Macula abnormality; Macular abnormality |
Very frequent |
Abnormality of movement |
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Synonyms:Abnormality of movement; Movement disorder; Unusual movement |
Very frequent |
Ascites |
Accumulation of fluid in the peritoneal cavity.
Synonyms:Accumulation of fluid in the abdomen |
Very frequent |
Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
Very frequent |
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 speech and language development |
A degree of language development that is significantly below the norm for a child of a specified age.
Synonyms:Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay |
Very frequent |
Dysostosis multiplex |
This information is currently in development.
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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 |
Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
Inguinal hernia |
Protrusion of the contents of the abdominal cavity through the inguinal canal.
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Very frequent |
Kyphosis |
Exaggerated anterior convexity of the thoracic vertebral column.
Synonyms:Gibbus deformity; Hunched back; Hyperkyphosis; Round back |
Very frequent |
Nephropathy |
A nonspecific term referring to disease or damage of the kidneys.
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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 |
Short thorax |
Reduced inferior to superior extent of the thorax.
Synonyms:Shorter than typical length between neck and abdomen |
Very frequent |
Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size |
Very frequent |
Umbilical hernia |
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Synonyms:Umbilical hernias |
Very frequent |