Orpha Number: 991
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|
|Pulmonary artery hypoplasia||
Underdeveloped lung artery
Underdeveloped lung[ more ]
|30%-79% of people have these symptoms|
Abnormality of the testis
|Abnormality of the uterus||
Uterine malformations[ more ]
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia[ more ]
|Death in infancy||
Lethal in infancy[ more ]
|Hypoplastic left heart||
Underdeveloped left heart
|Multicystic kidney dysplasia||0000003|
Absent/underdeveloped kidney[ more ]
|5%-29% of people have these symptoms|
|Abnormal aortic morphology||0001679|
|Abnormality of neuronal migration||0002269|
|Abnormality of the clavicle||
|Abnormality of the ribs||
|Abnormality of the spleen||0001743|
Uneven or disproportionate growth of one body part compared to another
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Decreased body height
Small stature[ more ]
|Situs inversus totalis||
All organs on wrong side of body
|Sudden cardiac death||
Premature sudden cardiac death
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.