RS148534854 TRPV4
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Associated Conditions
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuronopathy
distal hereditary motor
autosomal dominant 8
Spondylometaphyseal dysplasia
Kozlowski type
Inborn genetic diseases
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuronopathy
Other Variants in TRPV4