Abstract
Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / therapy*
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Cerebellum / abnormalities*
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Eye Abnormalities / diagnosis*
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Eye Abnormalities / genetics
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Eye Abnormalities / therapy*
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Female
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Humans
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Infant
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Infant, Newborn
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Kidney Diseases, Cystic / diagnosis*
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Kidney Diseases, Cystic / genetics
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Kidney Diseases, Cystic / therapy*
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Retina / abnormalities*
Supplementary concepts
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Agenesis of Cerebellar Vermis