RS398123555 FKTN
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A
4
Walker-Warburg congenital muscular dystrophy
FKTN-related disorder
Cardiovascular phenotype
Dilated cardiomyopathy 1X
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
type B4
type A1
Cardiovascular phenotype
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2M
Other Variants in FKTN