Klippel-Feil syndrome 1, autosomal dominant

Definition

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.

Also known as GDF6 isolated Klippel-Feil syndrome, isolated Klippel-Feil syndrome caused by mutation in GDF6, Klippel-Feil syndrome 1, autosomal dominant — per MONDO

Also identified as

• DOID 0080589 per MONDO
• MESH C536887 per MONDO
• OMIM 118100 per MONDO
• UMLS C1861689 per MONDO