Joubert syndrome
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
| Joubert syndrome | |
|---|---|
| Other names | CPD IV |
| Joubert syndrome is inherited via an autosomal recessive manner | |
| Specialty | Medical genetics |
Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University.
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