Klippel-Feil syndrome 2, autosomal recessive

Definition

Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.

Also known as isolated Klippel-Feil syndrome caused by mutation in MEOX1, Klippel-Feil syndrome 2, autosomal recessive, MEOX1 isolated Klippel-Feil syndrome — per MONDO

Also identified as

• DOID 0080590 per MONDO
• MESH C536888 per MONDO
• OMIM 214300 per MONDO
• UMLS C1859209 per MONDO