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 renal tubule||90%|
|Abnormality of the thyroid gland||90%|
|Aplasia/Hypoplasia of the cerebellum||90%|
|Sensorineural hearing impairment||50%|
|Skeletal muscle atrophy||50%|
|Autosomal recessive inheritance||-|