Klippel-Feil syndrome 1, autosomal dominant

MONDO:0007306

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

Also known as: Klippel-Feil Syndrome, GDF6 isolated Klippel-Feil syndrome, Klippel-Feil syndrome 1, autosomal dominant, isolated Klippel-Feil syndrome caused by mutation in GDF6, KFS1, Kfs, Klippel-FEIL syndrome 1, autosomal dominant, cervical vertebral fusion, autosomal dominant

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