Stickler syndrome type 2

MONDO:0011493

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).

Also known as: COL11A1 Stickler syndrome, Stickler syndrome caused by mutation in COL11A1, Stickler syndrome type II, STICKLER syndrome, type II, STL 2, STL2, Stickler syndrome, beaded vitreous type, Stickler syndrome, type 2

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