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 nail||-|
|Coarse facial features||-|
|Depressed nasal bridge||-|
|Hyperextensibility of the finger joints||-|
|Intellectual disability, mild||-|
|Knee flexion contracture||-|
|Neurological speech impairment||-|
|Sclerosis of skull base||-|
|Severe short stature||-|
|Wide nasal bridge||-|
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