Orpha Number: 73256
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||
|100% of people have these symptoms|
Too much cerebrospinal fluid in the brain
|80%-99% of people have these symptoms|
|Abnormality of lateral ventricle||0030047|
|Intracranial cystic lesion||0010576|
|30%-79% of people have these symptoms|
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
Abnormal deposits of calcium in the brain
|Decreased corneal reflex||0008000|
|Increased intracranial pressure||
Rise in pressure inside skull
|Nausea and vomiting||0002017|
|5%-29% of people have these symptoms|
Pins and needles feeling
Tingling[ more ]
Ringing in ears
Ringing in the ears[ more ]
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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