RS386834012 POMGNT1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Muscle eye brain disease
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Muscle eye brain disease
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Other Variants in POMGNT1