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|
IQ less than 20
|Multifocal cerebral white matter abnormalities||0007052|
Cavity within brain
|30%-79% of people have these symptoms|
Autoimmune disorder[ more ]
Brain wasting[ more ]
Abnormal deposits of calcium in the brain
|Chronic CSF lymphocytosis||0009704|
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Difficulty in walking
|Elevated hepatic transaminase||
High liver enzymes
|Extrapyramidal muscular rigidity||0007076|
Notched eyelid[ more ]
Paralysis or weakness of one side of body
Enlarged liver and spleen
|Hypoplasia of the
Underdevelopment of part of brain called corpus callosum
|Increased serum interferon-gamma level||0030356|
|Large beaked nose||0003683|
|Loss of speech||0002371|
Reduced head circumference
Small head circumference
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull[ more ]
Low muscle tone in trunk
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
Persistent blue color of hands, feet, or parts of face
Increased heart size[ more ]
|CSF lymphocytic pleiocytosis||0200149|
Husky voice[ more ]
Low set ears
Lowset ears[ more ]
Small penis[ more ]
Involuntary, rapid, rhythmic eye movements
Inflammation of fat tissue
Flat head syndrome
Flattening of skull
Rhomboid shaped skull[ more ]
Prolonged yellowing of skin in newborn
Drooping upper eyelid
Abnormal curving of the spine
|1%-4% of people have these symptoms|
Bulge in wall of large artery that carries blood away from heart
|Calcification of the aorta||0004963|
|Chronic lymphatic leukemia||0005550|
|Degeneration of the striatum||0040140|
Enlarged and thickened heart muscle
Loss of fat tissue in localized area
|Percent of people who have these symptoms is not available through HPO|
Disease of the joints
|Basal ganglia calcification||0002135|
|Deep white matter hypodensities||0007321|
|Feeding difficulties in infancy||0008872|
Flexed joint that cannot be straightened
scaly skin[ more ]
Involuntary muscle stiffness, contraction, or spasm
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The principle differential diagnoses are TORCH congenital infections (toxoplasma, rubella, CMV, HSV1 and HSV2).
Visit the Orphanet disease page for more information.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.