Details of Disease
General Information of Disease (ID: DISKAULK)
Disease Name | SELENON-related myopathy | ||||
---|---|---|---|---|---|
Synonyms | SELENON-related myopathy; SEPN1-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.
|
||||
Disease Hierarchy | |||||
Molecular Interaction Atlas (MIA) of This Disease
Molecular Interaction Atlas (MIA) | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
This Disease Is Related to 1 DOT Molecule(s)
|
|||||||||||||||||||||||||
References