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
- IGHMBP2(OMIM 600502)