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%|
|Cerebral cortical atrophy||90%|
|Limitation of joint mobility||90%|
|Reduced bone mineral density||90%|
|Neurological speech impairment||50%|
|Abnormality of the abdominal organs||7.5%|
|Abnormal upper motor neuron morphology||-|
|Abnormality of the foot||-|
|Abnormality of the hand||-|
|Autosomal recessive inheritance||-|
|Basal ganglia calcification||-|
|Frontal lobe dementia||-|
|Hypoplasia of the corpus callosum||-|
|Lack of insight||-|
|Primitive reflexes (palmomental, snout, glabellar)||-|
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.