Orpha Number: 139485
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|
Degeneration of cerebellum
|30%-79% of people have these symptoms|
Loss of developmental milestones
Mental deterioration in childhood[ more ]
|Focal T2 hypointense basal ganglia lesion||0012752|
|Proximal muscle weakness||0003701|
|Talipes cavus equinovarus||0004696|
|5%-29% of people have these symptoms|
|Abnormal pyramidal signs||0007256|
|Increased CSF lactate||0002490|
|Increased serum lactate||0002151|
Squint eyes[ more ]
|1%-4% of people have these symptoms|
Hearing defect[ more ]
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.
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.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
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