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 calvarial morphology | 90% |
| Abnormality of the genital system | 90% |
| Abnormality of the palate | 90% |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Cataract | 90% |
| Cognitive impairment | 90% |
| Epicanthus | 90% |
| Hypertonia | 90% |
| Microcephaly | 90% |
| Microcornea | 90% |
| Narrow mouth | 90% |
| Short stature | 90% |
| Upslanted palpebral fissure | 90% |
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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