Rare Disease Library

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

Laing distal myopathy

Distal myopathy type 1 · MPD1

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy