RS1317832573 POMGNT1
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Associated Conditions
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
POMGNT1-related disorder
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
Retinal dystrophy
Other Variants in POMGNT1