RS1204528532 GMPPB

Health Risk Chr 3:49723662
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Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Other Variants in GMPPB
rs397509422 rs397509423 rs397509424 rs397509425 rs397509426 rs202160208 rs142336618 rs199922550 rs142908436 rs875989850
Ask Dr. Hemsworth about this variant