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) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Muscular |
Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Abnormality of neuronal migration | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia affecting the eye | Frequent (present in 30%-79% of cases) |
| Bilateral single transverse palmar creases | Frequent (present in 30%-79% of cases) |
| Clinodactyly of the 5th finger | Frequent (present in 30%-79% of cases) |
| Hypoplasia of penis | Frequent (present in 30%-79% of cases) |
| Intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Joint stiffness | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Midface retrusion | Frequent (present in 30%-79% of cases) |
| Hypertonia | Occasional (present in 5%-29% 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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