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) |
| Abnormal facial shape | 35% |
| Abnormality of eye movement | - |
| Agenesis of corpus callosum | - |
| Anteverted nares | - |
| Apneic episodes precipitated by illness, fatigue, stress | - |
| Basal ganglia cysts | - |
| Cerebral atrophy | - |
| Choreoathetosis | - |
| Chronic lactic acidosis | - |
| Decreased activity of the pyruvate dehydrogenase complex | - |
| Dystonia | - |
| Episodic ataxia | - |
| Flared nostrils | - |
| Frontal bossing | - |
| Hyperalaninemia | - |
| Increased CSF lactate | - |
| Increased serum lactate | - |
| Infantile onset | - |
| Intellectual disability | - |
| Lethargy | - |
| Long philtrum | - |
| Microcephaly | - |
| Muscular hypotonia | - |
| Phenotypic variability | - |
| Ptosis | - |
| Seizures | - |
| Severe lactic acidosis | - |
| Small for gestational age | - |
| Ventriculomegaly | - |
| Wide nasal bridge | - |
| X-linked dominant inheritance | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Tuesday, December 2, 2014 -
Wednesday, December 3, 2014
Location: NIH Campus,
Bethesda,
MD
Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.
Contact: Kathryn Camp, MS, RD, CSP,(301) 435-3608, campkm@od.nih.gov
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
2013 Neurobiology of Disease in Children Symposium: Mitochondrial Disease
Wednesday, October 30, 2013 -
Wednesday, October 30, 2013
Location:
Austin,
TX
Description: The topic for the 2013 NDC Symposium is Mitochondrial Disease. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations.
Contact:
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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