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 neuronal migration||0002269|
Abnormal deposits of calcium in the brain
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Bleeding below the skin
Low platelet count
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Abnormal pyramidal sign||0007256|
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in adulthood
Involuntary writhing movements in fingers, hands, toes, and feet
|Basal ganglia calcification||0002135|
Slowness of movements[ more ]
|Calcification of the small brain vessels||0002504|
|Dense calcifications in the cerebellar dentate
Difficulty articulating speech
Impaired gait[ more ]
Lack of facial expression
Mask-like facial appearance[ more ]
Poor memory[ more ]
Cognitive decline, progressive
Progressive cognitive decline[ more ]
Worsens with time
Loss of bladder control
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
Differential diagnoses include hypoparathyroidism and pseudohypoparathyroidism, which can usually be excluded by normal serum levels of parathyroid hormone, Kenny-Caffey syndrome type 1, neurodegeneration with iron accumulation, Cockayne syndrome and Aicardi-Goutières syndrome (see these terms).
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. Submit a new question
How can I obtain information about treatment options for familial idiopathic basal ganglia calcification (FIBGC)? Is there any research being done to find a treatment or cure for this condition? See answer
The father of my children has been diagnosed with Fahr's disease. I am concerned for him and my children. I would like to learn more about this condition and how we might be able to help him. See answer