bn:03371858n
Noun Concept
Categories: Rare syndromes, Neurological disorders, Syndromes with craniofacial abnormalities, Genodermatoses, Syndromes with mental retardation
EN
Joubert syndrome  cerebellooculorenal syndrome  Cerebelloparenchymal disorder IV  Classic Joubert syndrome  CPD IV
EN
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Wikipedia
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EN
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Wikipedia
Joubert syndrome is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones Wikidata
A rare genetic disorder that affects the cerebellum. Wiktionary