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 the genital system||90%|
|Aplasia/Hypoplasia of the cerebellum||90%|
|Neurological speech impairment||90%|
|Abnormality of movement||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the metacarpal bones||50%|
|Skeletal muscle atrophy||50%|
|Autosomal recessive inheritance||-|
|Centrally nucleated skeletal muscle fibers||-|
|Cerebellar cortical atrophy||-|
|Elevated serum creatine phosphokinase||-|
|Failure to thrive||-|
|Progressive muscle weakness||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.