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 palate||90%|
|Skeletal muscle atrophy||90%|
New Directions in Biology and Disease of Skeletal Muscle
Sunday, June 29, 2014 -
Wednesday, July 2, 2014
Location: Chicago, IL
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
Contact: Dr. John D. Porter, 301-496-5739,firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research