RS119462981 POMT1

Health Risk Chr 9:131510401
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What This Variant Does
"[OMIM:?]
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Abnormality of the musculature
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Abnormality of the musculature
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Other Variants in POMT1
rs28941782 rs587777817 rs587777818 rs119462982 rs119462983 rs119462985 rs119462986 rs119462987 rs1051679985 rs587777819
Ask Dr. Hemsworth about this variant