Table 1.

Known and Suspected Genetic Causes of Stickler Syndrome

	Inheritance	Gene	Clinical Features	MIM No.*
1	AD	COL2A1	Membranous congenital vitreous anomaly, congenital megalophthalmos, deafness, arthropathy, cleft palate	108300
2	AD	COL2A1	Ocular only. Membranous congenital vitreous anomaly (usually), congenital megalophthalmos. No systemic features.	609508
3	AD	COL11A1	Ocular only. Membranous congenital vitreous anomaly (usually), congenital megalophthalmos. No systemic features.	604841
4	AR	COL11A1	Beaded congenital vitreous anomaly, congenital megalophthalmos, arthropathy, cleft palate, profound severe congenital deafness	MIM not yet assigned128
5	AD	COL11A2	Normal vitreous and ocular phenotype, deafness, arthropathy, cleft palate	184840
6	AR	COL9A1	Sensorineural deafness, myopia, vitreoretinopathy, epiphyseal dysplasia	614134
7	AR	COL9A2	Sensorineural deafness, myopia, vitreoretinopathy, epiphyseal dysplasia	614284
8	AR	COL9A3	Sensorineural deafness, myopia, vitreoretinopathy, epiphyseal dysplasia	620022
9	AD	BMP4	Hypoplastic vitreous, deafness, arthropathy, cleft palate	MIM not yet assigned129
10	AR	LOXL3	sensorineural deafness, myopia, vitreoretinopathy, epiphyseal dysplasia	MIM not yet assigned130
11	AR	LRP2	sensorineural deafness, myopia, vitreoretinopathy, epiphyseal dysplasia	MIM not yet assigned131

^*Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), {date}. World Wide Web URL: https://omim.org/.