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)|
|Hypoplasia of the maxilla||-|
|Low frustration tolerance||-|
|Lower limb amyotrophy||-|
|Lower limb muscle weakness||-|
|Short distal phalanx of finger||-|
|Urinary bladder sphincter dysfunction||-|
|X-linked recessive inheritance||-|
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