| dbo:description
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- حالة طبية (ar)
- autosomal recessive lysosomal storage disease (en)
- vaikea psykomotorisen kehityksen jälkeenjääneisyys ja ataksia (fi)
- malaltia hereditària que es transmet segons un patró autosòmic recessiu (ca)
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- Free Sialic Acid Storage Disorders (en)
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| dbp:causes
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- mutations in the SLC17A5 gene (en)
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| dbp:diagnosis
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- clinical evaluation and genetic testing (en)
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| dbp:diseasesdb
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| dbp:duration
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| dbp:field
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- Neurology, endocrinology (en)
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| dbp:frequency
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- <1 per 1,000,000 individuals (en)
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| dbp:genereviewsname
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- Free Sialic Acid Storage Disorders (en)
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| dbp:onset
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- Affected infants appear normal at birth but may develop symptoms during the first year of life. (en)
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| dbp:prognosis
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| dbp:symptoms
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- hepatosplenomegaly; hypotonia; failure to thrive; developmental delays; cognitive deficits; seizures; skeletal abnormalities; dysplasia; metaphyses; clubbed feet; abnormally short thigh bones; dysplasia; nystagmus; ataxia. (en)
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| dbp:synonyms
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- Sialic acid storage disease or Finnish type sialuria (en)
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| gold:hypernym
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| rdf:type
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| rdfs:label
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- Salla disease (en)
- Malaltia de Salla (ca)
- داء سالا (ar)
- Enfermedad de Salla (es)
- Maladies de surcharge en acide sialique libre (fr)
- Malattia di Salla (it)
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