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|
|5%-29% of people have these symptoms|
Abnormality of cognition
Mental impairment[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of temperature regulation||
Poor temperature regulation
|Abnormality of the cardiovascular system||
|Abnormality of the mouth||
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Poor feeding[ more ]
Sweating, increased[ more ]
Low set ears
Lowset ears[ more ]
|Posteriorly rotated ears||0000358|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
If you have a mutation in one copy of the PHOX2B gene, does that mean you definitely have some degree of the disease, or that you may have or may develop the disease? See answer
If a person with congenital central hypoventilation syndrome has a child, what are the odds that the child will need a tracheotomy? See answer