Orpha Number: 2585
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|
|Aplasia/Hypoplasia of the cerebellum||
Absent/underdeveloped cerebellum[ more ]
Degeneration of cerebellum
|30%-79% of people have these symptoms|
|Abnormal macrophage morphology||0004311|
|Abnormality of neutrophils||0001874|
|Acute myelomonocytic leukemia||0004820|
|Neurological speech impairment||
Speech impediment[ more ]
Involuntary, rapid, rhythmic eye movements
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Increased spleen size
|5%-29% of people have these symptoms|
|Abnormality of the cerebral white matter||0002500|
|Distal sensory impairment||
Decreased sensation in extremities
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Low blood cell count
|Percent of people who have these symptoms is not available through HPO|
Abnormal rhythmic movements of ankle
|Decreased nerve conduction velocity||0000762|
Difficulty articulating speech
Lack of coordination of movement
|Hyperactive deep tendon reflexes||0006801|
|Impaired vibration sensation in the lower limbs||
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs[ more ]
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.
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