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 blistering of the skin | 90% |
| Behavioral abnormality | 90% |
| Cheilitis | 90% |
| Cognitive impairment | 90% |
| Hearing impairment | 90% |
| Hypertrichosis | 90% |
| Inflammatory abnormality of the eye | 90% |
| Muscular hypotonia | 90% |
| Nausea and vomiting | 90% |
| Reduced consciousness/confusion | 90% |
| Seizures | 90% |
| Skin rash | 90% |
| Weight loss | 90% |
| Abnormal pattern of respiration | 50% |
| Hyperammonemia | 50% |
| Respiratory insufficiency | 50% |
| Alopecia | 7.5% |
| Dry skin | 7.5% |
| Incoordination | 7.5% |
| Thrombocytopenia | 7.5% |
| Autosomal recessive inheritance | - |
| Coma | - |
| Feeding difficulties in infancy | - |
| Hypertonia | - |
| Hyperventilation | - |
| Irritability | - |
| Lethargy | - |
| Metabolic acidosis | - |
| Organic aciduria | - |
| Tachypnea | - |
| Vomiting | - |
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.
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