RS1060505038 INPP5K
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What This Variant Does
"CLNSIG=5
Associated Conditions
Congenital muscular dystrophy with cataracts and intellectual disability
Congenital muscular dystrophy
Congenital myopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Congenital muscular dystrophy with cataracts and intellectual disability
Congenital muscular dystrophy
Congenital myopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Other Variants in INPP5K