RS63751220 GDF6
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What This Variant Does
"Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. [OMI...
Associated Conditions
Klippel-Feil syndrome 1
autosomal dominant
Microphthalmia
isolated
with coloboma 6
Isolated microphthalmia 4
Leber congenital amaurosis 17
GDF6-related disorder
Multiple synostoses syndrome 4
Klippel-Feil syndrome 1
autosomal dominant
Microphthalmia
isolated
with coloboma 6
Isolated microphthalmia 4
Other Variants in GDF6