Bhaskar Jagannathan syndrome
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Bhaskar Jagannathan syndrome is an extremely rare genetic disorder that is characterized by the constellation of features like arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones. When the entity was initially reported, the author raised the question if it could be a new cerebro-oculo-renal syndrome.
External links
- Bhaskar PA, Jagannathan K, Valmikinathan K (1974). "Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones". J. Neurol. Neurosurg. Psychiatr. 37 (12): 1299–1305. PMID 4448994.