RS886048941 TRPV4
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Associated Conditions
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Spondylometaphyseal dysplasia
Kozlowski type
Neuronopathy
distal hereditary motor
autosomal dominant 8
Brachyrachia (short spine dysplasia)
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Spondylometaphyseal dysplasia
Kozlowski type
Other Variants in TRPV4