Orpha Number: 2409
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||
|Percent of people who have these symptoms is not available through HPO|
|Abnormal heart morphology||
Abnormality of the heart
Abnormally shaped heart[ more ]
|Convex nasal ridge||
Polly beak nasal deformity[ more ]
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Pit in front of the ear
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
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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