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) |
| Clinodactyly of the 5th finger | Very frequent (present in 80%-99% of cases) |
| Cryptorchidism | Very frequent (present in 80%-99% of cases) |
| Generalized hirsutism | Very frequent (present in 80%-99% of cases) |
| Low-set, posteriorly rotated ears | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Umbilical hernia | Very frequent (present in 80%-99% of cases) |
| Ventricular septal defect | Very frequent (present in 80%-99% of cases) |
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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