SELENON-related myopathy

MONDO:0100100

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

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