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 fingernails | 90% |
| Anonychia | 90% |
| Delayed eruption of teeth | 90% |
| Hypoplastic toenails | 90% |
| Reduced number of teeth | 90% |
| Everted lower lip vermilion | 50% |
| Fine hair | 50% |
| Polycystic ovaries | 7.5% |
| Agenesis of permanent teeth | - |
| Autosomal dominant inheritance | - |
| Concave nail | - |
| Microdontia of primary teeth | - |
| Nail pits | - |
| Ridged nail | - |
| Small nail | - |
| Sparse hair | - |
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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