It is feasible that the major title of the record Joubert Syndrome is not the name you got. Happy examine the basic synonyms providing to locate the alternative name(s) and also condition class(s) covered by this record.
- cerebellooculorenal disorder 1; CORS1
- cerebelloparenchchymal condition IV domestic
- Joubert-Bolthauser disorder
Joubert disorder is an autosomal recessive congenital disease that influences the location of the mind that regulates equilibrium and also control. This problem is identified by a particular searching for on an MRI called a “molar tooth indicator” where the cerebellar vermis of the human brain is underdeveloped or missing and also the human brain stem is uncommon. One of the most typical attributes of Joubert disorder are absence of muscle tissue control (ataxia), irregular breathing patterns (hyperpnea), rest apnea, unusual eye as well as tongue motions and also reduced muscle mass tone.