The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of movement||90%|
|Functional respiratory abnormality||90%|
|Abnormality of temperature regulation||7.5%|
|Coronary artery disease||7.5%|
|Neoplasm of the nervous system||7.5%|
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.
My friend has chronic hiccups. His doctors have discovered tumors near his phrenic nerve and suspect that this may be the cause. They have recommended a number of different drug therapies, but nothing has worked. Has there been others with cases like his? See answer
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