Orpha Number: 139466
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||
|100% of people have these symptoms|
Retarded growth[ more ]
Low levels of amniotic fluid
Underdeveloped lung[ more ]
Missing kidney[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the adrenal glands||
|Hypoplasia of the bladder||
|Malrotation of small bowel||0004794|
Cleft of the mouth
Narrowing of pulmonic valve
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
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.
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.
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