Autosomal Dominant TRPV4 Disorders: Included Phenotypes 1
Neuromuscular disorders
  • Charcot-Marie-Tooth neuropathy type 2C (CMT2C)
  • Scapuloperoneal spinal muscular atrophy (SPSMA)
  • Congenital distal spinal muscular atrophy (CDSMA)
Skeletal dysplasias
  • Familial digital arthropathy-brachydactyly
  • Autosomal dominant brachyolmia
  • Spondylometaphyseal dysplasia, Kozlowski type
  • Spondyloepiphyseal dysplasia, Maroteaux type
  • Parastremmatic dysplasia
  • Metatropic dysplasia

For synonyms and outdated names see Nomenclature.

1.

The phenotypes comprising the two groups of autosomal dominant TRPV4 disorders are listed from mildest to most severe. For other genetic causes of these phenotypes see Differential Diagnosis.

From: Autosomal Dominant TRPV4 Disorders

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