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 neutrophil count||0011991|
|Bone marrow hypocellularity||
Bone marrow failure
Tiredness[ more ]
Swelling caused by excess lymph fluid under skin
|Neurological speech impairment||
Speech impediment[ more ]
|Prolonged bleeding time||0003010|
|Sensorineural hearing impairment||0000407|
Low platelet count
|30%-79% of people have these symptoms|
|Abnormality of the optic nerve||
Optic nerve issue
Easy bruising[ more ]
|Chronic otitis media||
Chronic infections of the middle ear
Bleeding within the skull
Intermittent migraine headaches
Migraine headaches[ more ]
|Nausea and vomiting||0002017|
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Increased spleen size
Loss of vision
Vision loss[ more ]
|5%-29% of people have these symptoms|
Prominent eye folds[ more ]
Abnormally close eyes
Closely spaced eyes[ more ]
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
Swollen lymph nodes
Tapering fingers[ more ]
|Percent of people who have these symptoms is not available through HPO|
Bacterial infection of skin
Skin infection[ more ]
Low blood cell count
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.
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.
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.