Klippel-Feil syndrome 1, autosomal dominant
Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.
MONDO:0001029
Klippel-Feil syndrome
is_a
GDF6 isolated Klippel-Feil syndrome
exact
KFS1
related
Klippel-Feil Syndrome
broad
Klippel-Feil syndrome 1, autosomal dominant
exact
isolated Klippel-Feil syndrome caused by mutation in GDF6
exact