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|
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
|30%-79% of people have these symptoms|
|Abnormal hair pattern||
Abnormal distribution of hair
|Abnormality of the hip bone||
Abnormality of the hips
|Coarse facial features||
Coarse facial appearance
|5%-29% of people have these symptoms|
|Cerebral cortical atrophy||0002120|
Paralysis of all four limbs
|Percent of people who have these symptoms is not available through HPO|
|Broad alveolar ridges||0000187|
|Intellectual disability, progressive||
Mental retardation, progressive
Progressive mental retardation
Increased size of eyes
|Limb joint contracture||
|Low anterior hairline||
Low frontal hairline
Low-set frontal hairline
Low muscle tone, in neonatal onset
|Prominent supraorbital ridges||
Loss of eyesight
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.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.