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|
|Aplasia/Hypoplasia of the cerebellum||
Absent/underdeveloped cerebellum[ more ]
|30%-79% of people have these symptoms|
|Abnormality of neuronal migration||0002269|
|Calvarial skull defect||
Skull defect[ more ]
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
|5%-29% of people have these symptoms|
|Abnormal lung lobation||0002101|
|Abnormality of cardiovascular system morphology||0030680|
Widely spaced eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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