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||
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the voice||
Degeneration of cerebrum
|Decreased plasma carnitine||0003234|
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Swallowing difficulty[ more ]
|Elevated intracellular cystine||0003358|
|Episodic metabolic acidosis||0004911|
|Exocrine pancreatic insufficiency||0001738|
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
Decreased ability to sweat
Sweating, decreased[ more ]
Low blood sodium levels
|Hypopigmentation of hair||0005599|
|Hypopigmentation of the skin||
Patchy lightened skin
Broad wide portion of long bone
Muscle tissue disease
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Increased urine output
|Progressive neurologic deterioration||0002344|
High urine protein levels
Protein in urine[ more ]
|Recurrent corneal erosions||0000495|
|Reduced visual acuity||0007663|
Renal failure in adulthood[ more ]
|Retinal pigment epithelial mottling||0007814|
Decreased body height
Small stature[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Increased spleen size
Loss of eyesight
Poor vision[ more ]
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.
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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.