Orpha Number: 1855
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|
|30%-79% of people have these symptoms|
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
|Abnormality of lateral ventricle||0030047|
|Abnormality of the periventricular white matter||0002518|
|Bowing of the legs||
Bowed lower limbs[ more ]
Abnormal deposits of calcium in the brain
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches[ more ]
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism[ more ]
Blood in urine
Mental retardation, nonspecific
Mental-retardation[ more ]
Short limbs[ more ]
|Lower limb pain||
Muscle pain[ more ]
High urine protein levels
Protein in urine[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
|Short distal phalanx of finger||
Short outermost finger bone
|Systemic lupus erythematosus||0002725|
Inflammation of blood vessel
|1%-4% of people have these symptoms|
Round back[ more ]
Decreased size of midface
Underdevelopment of midface[ more ]
Low blood cell count
Blotchy loss of skin color
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.
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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