RS386834014 POMGNT1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Muscle eye brain disease
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Other Variants in POMGNT1