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|
|Hypopigmented skin patches||0001053|
|Sensorineural hearing impairment||0000407|
Short stature, severe[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|Percent of people who have these symptoms is not available through HPO|
Hearing defect[ more ]
Decreased body height
Small stature[ more ]
Blotchy loss of skin color
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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