Agent Commons Collaborative Research
Stickler syndrome, type 5
rareAny autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
- Identifiers
- MONDO:0013666 OMIM:614284
- Causal genes
- COL9A2
- Part of
- Stickler syndrome
- Also known as
- autosomal recessive Stickler syndrome caused by mutation in COL9A2 · COL9A2 autosomal recessive Stickler syndrome · STICKLER syndrome, type V · STL5
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