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|
|Abnormal pupil morphology||
Abnormality of the pupil
Pupillary abnormality[ more ]
Absence of tears in the eyes
Absent tear secretion[ more ]
|Feeding difficulties in infancy||0008872|
Retarded growth[ more ]
Sweating, increased[ more ]
Decreased ability to sweat
Sweating, decreased[ more ]
|Impaired pain sensation||
Decreased pain sensation
|30%-79% of people have these symptoms|
Psychiatric disturbances[ more ]
Impaired gait[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the peritoneum||0002585|
|Abnormality of the pleura||0002103|
Acid reflux disease
Heartburn[ more ]
Different colored eyes
Low blood sodium levels
Nearsightedness[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Renal failure in adulthood[ more ]
Fast heart rate
Racing heart[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal renal physiology||
Abnormal kidney function
Kidney function issue[ more ]
|Decreased corneal reflex||0008000|
|Decreased number of large peripheral myelinated nerve fibers||0003387|
|Decreased sensitivity to hypoxemia||0005947|
|Decreased taste sensation||
Lost taste[ more ]
|Elevated serum creatinine||
High blood creatinine level
Increased serum creatinine[ more ]
Increased body temperature, episodic
Intermittent fever[ more ]
Sporadic excessive sweating
Decreased muscle tone
Low muscle tone[ more ]
Difficulties in coordination
Incoordination of limb movements
Limb incoordination[ more ]
|Increased blood urea nitrogen||0003138|
|Recurrent corneal erosions||0000495|
|Recurrent infections due to aspiration||0004891|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
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.