Orpha Number: 2770
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|
Abnormality of adipose tissue
Abnormality of fat tissue
Abnormality of fatty tissue[ more ]
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Loss of developmental milestones
Mental deterioration in childhood[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Poor memory[ more ]
|Reduced bone mineral density||0004349|
|30%-79% of people have these symptoms|
Abnormal deposits of calcium in the brain
|Neurological speech impairment||
Speech impediment[ more ]
Involuntary muscle stiffness, contraction, or spasm
|5%-29% of people have these symptoms|
|Functional abnormality of the gastrointestinal tract||0012719|
Too much cerebrospinal fluid in the brain
|Percent of people who have these symptoms is not available through HPO|
|Abnormal upper motor neuron morphology||
Abnormal shape of upper motor neuron
|Abnormality of the foot||
Abnormal feet morphology
Abnormality of the feet
Foot deformity[ more ]
|Abnormality of the hand||
Hand deformities[ more ]
Aggressiveness[ more ]
|Basal ganglia calcification||0002135|
Degeneration of cerebrum
Impaired gait[ more ]
|Hypoplasia of the
|Lack of insight||0000757|
Loss of bladder control
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.
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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