Genetic testing via whole-exome sequencing identified a COL11A1 (collagen type XI alpha 1 chain) gene variant (c.4032G>A, p.Pro1344=; NM_001854.4), associated with Stickler syndrome type 2 (STL2), an autosomal dominant heterozygous disorder. The gene discussed is COL11A1; the disease is Stickler syndrome type 2.