Orpha Number: 1229
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 deposits of calcium in the brain
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Involuntary muscle stiffness, contraction, or spasm
|30%-79% of people have these symptoms|
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
|5%-29% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
|Opacification of the corneal stroma||0007759|
Renal failure in adulthood[ more ]
|Percent of people who have these symptoms is not available through HPO|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
Underdeveloped cerebellum[ more ]
|Decreased liver function||
|Elevated hepatic transaminase||
High liver enzymes
|Failure to thrive||
Weight faltering[ more ]
Increased palatal height[ more ]
IQ less than 20
Yellowing of the skin[ more ]
Low set ears
Lowset ears[ more ]
Small retruded chin
Low muscle tone in trunk
Involuntary, rapid, rhythmic eye movements
Fewer and broader ridges in brain
More grooves in brain
Receding forehead[ more ]
Increased spleen size
Low platelet 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.
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