DYNC1H1 relatert proksimal spinal muskelatrofi
Engelsk navn: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Engelske synonym: DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy,SMALED1
Definisjon
This disease is described under Autosomal dominant childhood-onset proximal spinal muscular atrophy
Fra Orphanet
ORPHA: 209341
Klassifiseringsnivå: Subtype of disorder
ICD-10: G12.1