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. [ http://www.ncbi.nlm.nih.gov/pubmed/12192640 ]

This is just here as a test because I lose it

Term information

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

created by

http://orcid.org/0000-0001-5208-3432

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.

has exact synonym

SEPN1-related myopathy

id

MONDO:0100100