RS398124245 POMT1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
POMT1-related disorder
Abnormal brainstem morphology
Ventriculomegaly
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy
type C
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Other Variants in POMT1