Marinesco–Sjögren syndrome

Also known as: Marinesco–Sjögren syndrome

Recessive syndrome of ataxia, cataracts and myopathy.

Medical specialty: Neurology
Subspecialty: Neurology / Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital cataracts in infancy, ataxia in early childhood
Gene(s) involved: SIL1

Etiology & mechanism

SIL1 mutations.

Gene(s) involved (1)

SIL1

Symptoms & signs (6)

cerebellar ataxiacongenital cataractshypotoniaintellectual disabilitymyopathyshort stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.