RS886042506 FKRP
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A5
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A5
Autosomal recessive limb-girdle muscular dystrophy
Cardiovascular phenotype
Other Variants in FKRP