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 mucopolysaccharide metabolism||0011020|
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal[ more ]
|Aplasia/Hypoplasia of the abdominal wall musculature||
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles[ more ]
Impaired gait[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Noninflammatory retina disease
Squint eyes[ more ]
|30%-79% of people have these symptoms|
Low or weak muscle tone
Involuntary, rapid, rhythmic eye movements
|5%-29% of people have these symptoms|
|Abnormal nasal morphology||
Abnormal of nasal shape
Abnormal of shape of nose[ more ]
|Abnormality of retinal pigmentation||0007703|
|Coarse facial features||
Coarse facial appearance
|Everted lower lip vermilion||
Drooping lower lip
Outward turned lower lip[ more ]
Knee hyperextension[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Decreased width of tooth
Thickening of palms and soles
|Percent of people who have these symptoms is not available through HPO|
|Abnormal abdomen morphology||
Abnormality of abdomen structure
Degeneration of cerebellum
|Decreased light- and dark-adapted electroretinogram amplitude||0000654|
Decreased muscle tone
Low muscle tone[ more ]
Elevated gastrin in the blood
Increased blood gastrin[ more ]
Onset in first year of life
Onset in infancy[ more ]
|Opacification of the corneal stroma||0007759|
|Progressive neurologic deterioration||
Worsening neurological symptoms
Loss of eyesight
Poor vision[ more ]
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.
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.