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 eye | 90% |
| Abnormality of the eyebrow | 90% |
| Congenital, generalized hypertrichosis | 90% |
| Fine hair | 90% |
| Hypopigmentation of hair | 90% |
| Glossitis | 50% |
| Acanthosis nigricans | 7.5% |
| Ichthyosis | 7.5% |
| Lymphadenopathy | 7.5% |
| Malabsorption | 7.5% |
| Neoplasm of the breast | 7.5% |
| Neoplasm of the lung | 7.5% |
| Ovarian neoplasm | 7.5% |
| Weight loss | 7.5% |
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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