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 adipose tissue | 90% |
| Abnormality of epiphysis morphology | 90% |
| Arthralgia | 90% |
| Behavioral abnormality | 90% |
| Bone cyst | 90% |
| Bone pain | 90% |
| Cerebral cortical atrophy | 90% |
| Developmental regression | 90% |
| Limitation of joint mobility | 90% |
| Memory impairment | 90% |
| Reduced bone mineral density | 90% |
| Skeletal dysplasia | 90% |
| Ventriculomegaly | 90% |
| Agnosia | 50% |
| Cerebral calcification | 50% |
| Chorea | 50% |
| Hypertonia | 50% |
| Neurological speech impairment | 50% |
| Oculomotor apraxia | 50% |
| Seizures | 50% |
| Abnormality of the abdominal organs | 7.5% |
| Acute leukemia | 7.5% |
| Hydrocephalus | 7.5% |
| Abnormal upper motor neuron morphology | - |
| Abnormality of the foot | - |
| Abnormality of the hand | - |
| Aggressive behavior | - |
| Apraxia | - |
| Autosomal recessive inheritance | - |
| Axonal loss | - |
| Babinski sign | - |
| Basal ganglia calcification | - |
| Caudate atrophy | - |
| Cerebral atrophy | - |
| Disinhibition | - |
| EEG abnormality | - |
| Frontal lobe dementia | - |
| Gait disturbance | - |
| Gliosis | - |
| Hypoplasia of the corpus callosum | - |
| Lack of insight | - |
| Leukoencephalopathy | - |
| Myoclonus | - |
| Pathologic fracture | - |
| Peripheral demyelination | - |
| Personality changes | - |
| Primitive reflex | - |
| Spasticity | - |
| Urinary incontinence | - |
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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