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 the palate||
Abnormality of the roof of the mouth
|Abnormality of the respiratory system||0002086|
|Atrial septal defect||0001631|
|Clinodactyly of the 5th finger||0004209|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Widely spaced eyes[ more ]
|Low-set, posteriorly rotated ears||0000368|
|30%-79% of people have these symptoms|
|Abnormality of the ribs||
Nearsightedness[ more ]
|Spina bifida occulta||0003298|
High schoulder blade
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Aplasia/Hypoplasia of the distal phalanges of the toes||
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe[ more ]
Patch of white hair
White patch[ more ]
|Prominent veins on trunk||0007457|
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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