Orpha Number: 2523
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|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Abnormality of cognition
Mental impairment[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Involuntary muscle stiffness, contraction, or spasm
|30%-79% of people have these symptoms|
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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