RS104894680 FKRP
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What This Variant Does
"[OMIM:?]
Associated Conditions
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development)
type B
5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A5
Cardiovascular phenotype
Muscular dystrophy-dystroglycanopathy type B5
Autosomal recessive limb-girdle muscular dystrophy type 2I
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
FKRP-related disorder
Walker-Warburg congenital muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development)
type B
Other Variants in FKRP