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Stickler syndrome type 2
rareStickler 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).
- Identifiers
- MONDO:0011493 OMIM:604841Orphanet:90654
- Causal genes
- COL11A1
- Part of
- Stickler syndrome
- Also known as
- COL11A1 Stickler syndrome · Stickler syndrome caused by mutation in COL11A1 · Stickler syndrome type II · Stickler syndrome, type 2 · STICKLER syndrome, type II
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