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 prenatal development or birth | 90% |
| Cognitive impairment | 90% |
| EEG abnormality | 90% |
| Muscular hypotonia | 90% |
| Seizures | 90% |
| Short stature | 90% |
| Abnormality of neuronal migration | 50% |
| Aplasia/Hypoplasia affecting the eye | 50% |
| Clinodactyly of the 5th finger | 50% |
| Hypoplasia of penis | 50% |
| Intrauterine growth retardation | 50% |
| Limitation of joint mobility | 50% |
| Malar flattening | 50% |
| Microcephaly | 50% |
| Single transverse palmar crease | 50% |
| Hypertonia | 7.5% |
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.
Malignant Hyperthermia (MH): New Insights and Connections
Friday, April 23, 2010 -
Saturday, April 24, 2010
Location: University of Pittsburgh Medical Center (UPMC),
Pittsburgh,
PA
Description: The goal of this meeting was to allow clinicians and scientists to share new data, translate that information into effective strategies for patient diagnosis and management, and provide motivation for new research efforts.
Contact: Dr. Theresa Smith, NIAMS(301) 435-5595smiththe@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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