RS542489955 FKBP14
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What This Variant Does
"CLNSIG=5
Associated Conditions
Congenital muscular dystrophy
Pes valgus
Hypotonia
Thoracolumbar scoliosis
Joint hypermobility
Ehlers-Danlos syndrome
kyphoscoliotic type
2
Cardiovascular phenotype
FKBP14-related disorder
Congenital muscular dystrophy
Pes valgus
Hypotonia
Thoracolumbar scoliosis
Joint hypermobility
Other Variants in FKBP14