Dystonia 27

Definition

Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.

Also known as COL6A3 dystonic disorder, dystonia 27, dystonia type 27, dystonic disorder caused by mutation in COL6A3 — per MONDO

Also identified as

• DOID 0090050 per MONDO
• OMIM 616411 per MONDO
• Orphanet 464440 per MONDO
• UMLS C4225336 per MONDO