SELENON-related myopathy
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.
MONDO:0019952
congenital myopathy
is_a
SELENON-related myopathy
exact
SEPN1-related myopathy
exact