RS150576537 POMGNT1
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Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy
alpha-dystroglycan related
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy
alpha-dystroglycan related
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Other Variants in POMGNT1