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||
|Percent of people who have these symptoms is not available through HPO|
Degeneration of cerebellum
Degeneration of cerebrum
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Difficulty articulating speech
Lack of coordination of movement
Swallowing difficulty[ more ]
Inward turning cross eyed
Decreased muscle tone
Low muscle tone[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Loss of speech||0002371|
Involuntary, rapid, rhythmic eye movements
Worsens with time
Involuntary muscle stiffness, contraction, or spasm
|Weakness of facial musculature||
Decreased facial muscle strength
Decreased strength of facial muscles
Facial muscle weakness
Reduced facial muscle strength
Weakness of face[ 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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