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)|
|Postaxial hand polydactyly||77%|
|Cleft in skull base||76%|
|Abnormality of the pinna||70%|
|Abnormal lung lobation||66%|
|Complete atrioventricular canal defect||48%|
|Duplication of phalanx of hallux||47%|
|Upper limb undergrowth||24%|
|Abnormal cortical gyration||-|
|Abnormality of the vagina||-|
|Absent septum pellucidum||-|
|Adrenal gland dysgenesis||-|
|Agenesis of corpus callosum||-|
|Agenesis of the diaphragm||-|
|Autosomal recessive inheritance||-|
|Intrauterine growth retardation||-|
|Median cleft lip||-|
|Preaxial hand polydactyly||-|
|Proximal tibial hypoplasia||-|
|Ventricular septal defect||-|
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