RS543163491 FKRP
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What This Variant Does
"CLNSIG=5
Associated Conditions
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2I
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Other Variants in FKRP