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 extrapyramidal motor function | - |
| Abnormality of the retinal vasculature | - |
| Ataxia | - |
| Autosomal recessive inheritance | - |
| Chronic diarrhea | - |
| Decreased activity of cytochrome C oxidase in muscle tissue | - |
| Developmental regression | - |
| Encephalopathy | - |
| Ethylmalonic aciduria | - |
| Failure to thrive | - |
| Focal T2 hyperintense basal ganglia lesion | - |
| Intellectual disability | - |
| Lactic acidosis | - |
| Muscular hypotonia | - |
| Petechiae | - |
| Seizures | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
