RS387907300 POMGNT2

Health Risk Chr 3:43080959
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What This Variant Does
"CLNSIG=5
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type a
8
Severe hydrocephalus
Neonatal death
Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type a
8
Severe hydrocephalus
Neonatal death
Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C
Other Variants in POMGNT2
rs387907299 rs752069645 rs147429438 rs142190930 rs780525490 rs143394182 rs200535361 rs1553618354 rs368531523 rs140389725
Ask Dr. Hemsworth about this variant