Orpha Number: 381
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 | ||
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
|
0002216 |
Silver-gray hair |
Silver-gray hair color
Silvery-gray hair
[ more ]
|
0002218 |
White hair | 0011364 | |
30%-79% of people have these symptoms | ||
Abnormal circulating lipid concentration | 0003119 | |
Abnormality of neutrophils | 0001874 | |
Decreased circulating |
0004313 | |
Decreased immune function
|
0002721 | |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Reduced tendon reflexes | 0001315 | |
Low platelet count
|
0001873 | |
5%-29% of people have these symptoms | ||
Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ]
|
0000499 |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
0001251 | ||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Cranial nerve paralysis | 0006824 | |
Encephalocele | 0002084 | |
Fever | 0001945 | |
Global |
0001263 | |
Hepatitis |
Liver inflammation
|
0012115 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Iris hypopigmentation |
Light eye color
|
0007730 |
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
|
0010741 |
Pyloric stenosis | 0002021 | |
0001250 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Splenomegaly |
Increased spleen size
|
0001744 |
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.
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.
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.
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