RS764210532 POMT2
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What This Variant Does
"CLNSIG=4
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B2
Autosomal recessive limb-girdle muscular dystrophy type 2N
Other Variants in POMT2