has material basis in germline mutation in TRPV4 autosomal dominant disease spinal muscular atrophy scapuloperoneal spinal muscular atrophy, autosomal dominant https://www.malacards.org/card/scapuloperoneal_spinal_muscular_atrophy EFO:1001992 GARD:0010314 SPSMA ICD9:335.19 scapuloperoneal neuronopathy UMLS:C0751335 MEDGEN:148283 MONDO:0008408 SCTID:230248006 neurogenic scapuloperoneal amyotrophy, New England type DOID:0111552 scapuloperoneal spinal muscular atrophy Orphanet:431255 OMIM:181405