SELENON-related myopathy

Definition

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.

Also known as SELENON-related myopathy, SEPN1-related myopathy — per MONDO