RS397509422 GMPPB
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What This Variant Does
"CLNSIG=5
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B14
Abnormality of the musculature
Inborn genetic diseases
GMPPB-related disorder
Limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B14
Abnormality of the musculature
Other Variants in GMPPB