Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Stickler syndrome type 1
MONDO:0007160
Stickler syndrome type 2
MONDO:0011493
Stickler syndrome, type 5
MONDO:0013666
Stickler syndrome, type 6
MONDO:0031047