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Marinesco–Sjögren syndrome
Marinesco–Sjögren syndrome Marinesco–Sjögren syndrome is a rare inherited biological disorder that begins in early infancy and is marked mainly by problems with coordination from cerebellar dysfunction, progressive muscle disease, cataracts, and intellectual disability.
Marinesco–Sjögren syndrome is a rare inherited biological disorder that begins in early infancy and is marked mainly by problems with coordination from cerebellar dysfunction, progressive muscle disease, cataracts, and intellectual disability. In many affected people, it is linked to damaging variants in the SIL1 gene that lead to loss of the SIL1 protein.