Joubert syndrome is a clinically and genetically quite heterogeneous disorder. Inheritance is mostly autosomal recessive. The typical clinical signs include neurological symptoms that result from hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign' and to a variable degree retinal dystrophy and renal cysts.
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Keeler LC et al. (2003) Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. |
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Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. |
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Gustavson KH et al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). |
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Orphanet article Orphanet ID 475 |
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Wikipedia article Wikipedia EN (Joubert_syndrome) |