Disease name

Autosomal dominant congenital benign spinal muscular atrophy
 Autosomal dominant congenital benign spinal muscular atrophy

Marker gene

Gene symbol Chromosome location Protein name
TRPV4 12q24.11 Transient receptor potential cation channel subfamily V member 4

ICD 10 code

G12.2

MIM number

600175

Synonym

Autosomal dominant benign distal spinal muscular atrophy

Summary

Under development.