This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Impaired gait[ more ]
Paralysis or weakness of one side of body
Too much cerebrospinal fluid in the brain
Mental retardation, nonspecific
Mental-retardation[ more ]
|Nausea and vomiting||0002017|
Involuntary muscle stiffness, contraction, or spasm
|30%-79% of people have these symptoms|
Inward turned thumb
|5%-29% of people have these symptoms|
Enlarged colon lacking nerve cells
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis is broad. Other hydrocephalus and spastic paraplegia disorders should be ruled out. A pediatric/neurologic/clinical genetics work-up enables diagnosis of the possible individual diseases.
Visit the Orphanet disease page for more information.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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