The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the cardiac septa||-|
|Abnormality of the larynx||-|
|Abnormality of the ureter||-|
|Abnormality of the uterus||-|
|Agenesis of corpus callosum||-|
|Ambiguous genitalia, female||-|
|Ambiguous genitalia, male||-|
|Autosomal recessive inheritance||-|
|Bile duct proliferation||-|
|Bowing of the long bones||-|
|Cleft upper lip||-|
|Coarctation of aorta||-|
|Elevated amniotic fluid alpha-fetoprotein||-|
|External genital hypoplasia||-|
|Hypoplasia of the bladder||-|
|Intrauterine growth retardation||-|
|Olfactory lobe agenesis||-|
|Patent ductus arteriosus||-|
|Polycystic kidney dysplasia||-|
|Postaxial hand polydactyly||-|
|Radial deviation of finger||-|
|Single umbilical artery||-|
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.
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