Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, the area of the brain that controls balance and coordination. It 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.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Joubert syndrome (Wikipedia)
Wikipedia intro: Joubert syndrome: 'autosomal recessive genetic disorder that affects the cerebellum'; first identified 1969View the Source 2. World Health Organization: ICD-10 Version:2019, Chapter XVII, Q00-Q07
World Health OrganizationCategory Q04.3Quote, Category Q04.3
Q04.3 Other reduction deformities of brain
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