RS776061161 POMT1
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Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
POMT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Other Variants in POMT1