The list of signs and symptoms mentioned in various sources for Infantile Refsum Disease includes the 11 symptoms listed below:
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Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). (Source: excerpt from NINDS Infantile Refsum Disease Information Page: NINDS)
These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:
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The symptom information on this page attempts to provide a list of some possible signs and symptoms of Infantile Refsum Disease. This signs and symptoms information for Infantile Refsum Disease has been gathered from various sources, may not be fully accurate, and may not be the full list of Infantile Refsum Disease signs or Infantile Refsum Disease symptoms. Furthermore, signs and symptoms of Infantile Refsum Disease may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Infantile Refsum Disease symptoms.
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