has material basis in germline mutation in SELENON rigid spine muscular dystrophy 1 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/congenital_myopathy_3_with_rigid_spine MDRS1 MONDO:0011271 SEPN1-related myopathy SCTID:240063002 myopathy, SEPN1-related RSS minicore myopathy, severe classic form RSMD1 NCIT:C126691 GARD:0024786 multicore myopathy, severe classic form rigid spine muscular dystrophy 1 muscular dystrophy, congenital, Eichsfeld type rigid spine muscular dystrophy type 1 classic multiminicore disease classic multiminicore myopathy UMLS:C0410180 rigid spine syndrome muscular dystrophy, congenital, merosin-positive, with early spine rigidity OMIM:602771 classic MmD multiminicore disease, severe classic form DOID:0110633 muscular dystrophy, rigid spine, 1 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. MEDGEN:98047 SELENON rigid spine syndrome rigid spine syndrome caused by mutation in SELENON multiminicore myopathy rigid spine syndrome SELENON-related myopathy