Orpha Number: 2119
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|
|30%-79% of people have these symptoms|
|Abnormality of the pharynx||0000600|
|Abnormality of the pupil||
Pupillary abnormality[ more ]
|Abnormality of the retinal vasculature||
Abnormality of retina blood vessels
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
Premature delivery of affected infants
Preterm delivery[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Death in infancy||
Lethal in infancy[ more ]
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.
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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