RS28940869 POMGNT1
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What This Variant Does
"[OMIM:MUSCLE-EYE-BRAIN DISEASE]
Associated Conditions
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
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
Retinal dystrophy
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Other Variants in POMGNT1