Stickler syndrome, type 4

Definition

Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.

Also known as autosomal recessive Stickler syndrome caused by mutation in COL9A1, COL9A1 autosomal recessive Stickler syndrome — per MONDO

Also identified as

• OMIM 614134 per MONDO
• UMLS C3279941 per MONDO