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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormal urinary color |
Abnormal urinary colour
Abnormal urine color
[ more ]
|
0012086 |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Ataxia | 0001251 | |
| Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
| 0002353 | ||
| Emotional lability |
Emotional instability
|
0000712 |
| Hallucinations |
Hallucination
Sensory hallucination
[ more ]
|
0000738 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Neutral hyperaminoaciduria | 0008353 | |
| 30%-79% of people have these symptoms | ||
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
| Skin rash | 0000988 | |
| Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 |
| 5%-29% of people have these symptoms | ||
| Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ]
|
0008066 |
| Encephalitis |
Brain inflammation
|
0002383 |
| Gingivitis |
Inflamed gums
Red and swollen gums
[ more ]
|
0000230 |
| Global |
0001263 | |
| Glossitis |
Inflammation of the tongue
Smooth swollen tongue
[ more ]
|
0000206 |
| Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Irregular hyperpigmentation | 0007400 | |
|
Seizure
|
0001250 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Episodic ataxia | 0002131 | |
| Hypertonia | 0001276 | |
| Psychosis | 0000709 | |
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Pellagra is the main differential diagnosis. Blue diaper syndrome, ataxia-telangiectasia, hydroa vacciniforme, pityriasis alba, and xeroderma pigmentosum (see these terms) should be excluded.
Visit the
Orphanet disease page
for more information.
|
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.
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.
National Family Health History Day
November 20, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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.
