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sialidosis type II |
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sialidosis type II An AR condition characterized by coarse facies and dysostosis multiplex, divided into a congenital form with ascites, hydrops fetalis, gargoyle-like facies, visceromegaly, mental retardation, myoclonus, tonic-clonic
seizures, cherry-red spots, hearing loss, deficiency of alpha-N-acetylneuraminidase, usually with a partial defect of β-galactosidase; infantile and juvenile forms are less severe How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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