RS121912637 TRPV4
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What This Variant Does
"[OMIM:?]
Associated Conditions
Spondyloepimetaphyseal dysplasia
Maroteaux type
Metatropic dysplasia
Skeletal dysplasia
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Parastremmatic dwarfism
Spondylometaphyseal dysplasia
Kozlowski type
TRPV4-related disorder
Metatropic dysplasia
Neuromuscular disease
Skeletal dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Spondyloepimetaphyseal dysplasia
Other Variants in TRPV4