The patient 35238 and his mother (42783) were referred as NSHL, but they were found to carry a pathogenic variant in COL11A2: c.4392 + 1G > A. This variant had been previously reported by Brunner et al. (1994) [48] associated with Stickler syndrome without eye affectation. The gene discussed is COL11A2; the disease is nodular sclerosis classical Hodgkin lymphoma.