Marinesco-Garland syndrome

Ma·ri·nes·co-Gar·land syn·drome

(mah-rē-nes'kō gar'lănd), [MIM*248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. Synonym(s): cataract-oligophrenia syndrome, Marinesco-Sjögren syndrome, Torsten Sjögren syndrome

Marinesco-Sjögren syndrome

An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.
Molecular pathology
Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome.

单词	marinesco-garland syndrome
释义	Marinesco-Garland syndrome Ma·ri·nes·co-Gar·land syn·drome (mah-rē-nes'kō gar'lănd), [MIM*248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. Synonym(s): cataract-oligophrenia syndrome, Marinesco-Sjögren syndrome, Torsten Sjögren syndrome Marinesco-Sjögren syndrome An autosomal recessive condition (OMIM:248800) characterised by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy with marked muscle replacement by fat and connective tissue, and delayed psychomotor development; variably accompanied by short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness. Molecular pathology Defects of SIL1, which encodes a glycoprotein required for protein translocation and folding in the endoplasmic reticulum, cause Marinesco-Sjögren syndrome.
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