Stickler syndrome type 2
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).
MONDO:0019354
Stickler syndrome
is_a
COL11A1 Stickler syndrome
exact
STICKLER syndrome, type II
related
STL 2
related
STL2
related
Stickler syndrome caused by mutation in COL11A1
exact
Stickler syndrome type II
exact
Stickler syndrome, type 2
related