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) |
| Arrhythmia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Adipose |
- |
| Arthralgia | - |
| - | |
| Basal ganglia calcification | - |
| Bone pain | - |
| Camptodactyly of finger | - |
| Cardiomegaly | - |
| Clubbing of fingers | - |
| Congestive heart failure | - |
| Conjunctivitis | - |
| Elbow flexion |
- |
| Elevated |
- |
| Elevated hepatic transaminases | - |
| Episcleritis | - |
| Erythema | - |
| Failure to thrive | - |
| Flexion contracture of toe | - |
| Hepatomegaly | - |
| Hyperpigmentation of the skin | - |
| Hypertriglyceridemia | - |
| Increased |
- |
| - | |
| Large eyes | - |
| Lipodystrophy | - |
| Long fingers | - |
| Macrotia | - |
| Microcytic |
- |
| Osteopenia | - |
| Panniculitis | - |
| Prominent nose | - |
| Skeletal muscle atrophy | - |
| Splenomegaly | - |
| Thick lower lip vermilion | - |
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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