COL11A1 and Stickler syndrome type 2: The proband also carried a paternally inherited heterozygous in-frame deletion in COL11A1 [NM_001854.4: c.3874_3879del; p.(Pro1292_Pro1293del); likely pathogenic (ACMG Class 4)], a gene where heterozygous variants are associated with deafness (DFNA37, OMIM 618533), Marshall syndrome (MRSHS, OMIM 154780) and Stickler syndrome type II (STL2, OMIM 604841).