SMALED2A
Også kjent som: SMALED2
Engelsk navn: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Engelske synonym: BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures,SMALED2
Definisjon
This disease is described under Autosomal dominant childhood-onset proximal spinal muscular atrophy
Fra Orphanet
ORPHA: 363454
Klassifiseringsnivå: Subtype of disorder
ICD-10: G12.1