Medical Terms | Other Names | Learn More: |
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80%-99% of people have these symptoms | ||
Aqueductal stenosis | 0002410 | |
Depressivity | Depression | 0000716 |
Gait disturbance | Abnormal walk [ more ] | 0001288 |
Global | 0001263 | |
Headache | Headaches | 0002315 |
Hemiplegia/hemiparesis | 0004374 | |
Too much cerebrospinal fluid in the brain | 0000238 | |
Hyperreflexia | 0001347 | |
Mental deficiency Mental retardation, nonspecific [ more ] | 0001249 | |
Language impairment | 0002463 | |
Nausea and vomiting | 0002017 | |
Involuntary muscle stiffness, contraction, or spasm | 0001257 | |
30%-79% of people have these symptoms | ||
Adducted thumb | 0001181 | |
5%-29% of people have these symptoms | ||
Aganglionic megacolon | Enlarged colon lacking nerve cells | 0002251 |
0001250 | ||
Skeletal muscle atrophy | Muscle wasting [ more ] | 0003202 |
Conditions with similar signs and symptoms from Orphanet |
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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. |