Krankheit

Spinale Muskelatrophie mit Atemnot; Typ 1

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1

OMIM: 604320

Synonyme

  • SMARD1
  • SMA, diaphragmale
  • Muskelatrophie (spinale mit Atemnot Typ 1)
  • NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI
  • HMN VI
  • SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE; SIANRF
  • NEUROPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE
  • SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC

Gen locations