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)|
|Decreased nerve conduction velocity||90%|
|Skeletal muscle atrophy||90%|
|Camptodactyly of finger||50%|
|Ulnar deviation of finger||50%|
|Abnormality of pelvic girdle bone morphology||7.5%|