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|
|Death in infancy||
Lethal in infancy[ more ]
|Decreased nerve conduction velocity||0000762|
|Global developmental delay||0001263|
Mental retardation, nonspecific
Mental-retardation[ more ]
|Sensorineural hearing impairment||0000407|
Paralysis of all four limbs
Loss of eyesight
Poor vision[ more ]
|30%-79% of people have these symptoms|
|Progressive muscle weakness||0003323|
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal[ more ]
Swallowing difficulty[ more ]
Retarded growth[ more ]
Hearing defect[ more ]
Decreased immune function
Low muscle tone, in neonatal onset
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
|Recurrent upper respiratory tract infections||0002788|
|Spinal cord posterior columns
Loss of vision
Vision loss[ 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.
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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