Orpha Number: 100070
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|
|Frontotemporal cerebral atrophy||0006892|
|Grammar-specific speech disorder||0006977|
Poor memory[ more ]
|Spoken Word Recognition Deficit||0030391|
|Temporal cortical atrophy||0007112|
|Thickened nuchal skin fold||
Thickened skin folds of neck
Thickened skin over the neck[ more ]
|30%-79% of people have these symptoms|
|Abnormal brain FDG positron emission tomography||0012658|
|Abnormality of the cerebral white matter||0002500|
Word blindness[ more ]
Excessive, persistent worry and fear
|5%-29% of people have these symptoms|
|Abnormal lower motor neuron morphology||0002366|
Loss of expressive speech
Inability to speak
Muteness[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abdominal aortic aneurysm||0005112|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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