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|
|Abnormal chorioretinal morphology||0000532|
|Sensorineural hearing impairment||0000407|
Type 2 diabetes
Type II diabetes[ more ]
|30%-79% of people have these symptoms|
|Abnormality of lipid metabolism||0003119|
|Aplasia/Hypoplasia of the cerebellum||
Absent/underdeveloped cerebellum[ more ]
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|Congestive heart failure||
Heart failure[ more ]
High urine protein levels
Protein in urine[ more ]
|5%-29% of people have these symptoms|
Drooping upper eyelid
Renal failure in adulthood[ more ]
Noninflammatory retina disease
Loss of eyesight
Poor vision[ more ]
|Percent of people who have these symptoms is not available through HPO|
Difficulty articulating speech
High blood sugar
Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial
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.
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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