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Marinesco-Sjogren syndrome

rare

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Identifiers
MONDO:0009567 OMIM:248800Orphanet:559
Causal genes
SIL1
Part of
Autosomal recessive degenerative and progressive cerebellar ataxiaSyndromic disease
Also known as
Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism · Marinesco-Sjogren syndrome-myopathy · Marinesco-Sjogren-Garland syndrome · Marshall Smith Syndrome

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