congenital myopathy 5 (DOID:0081341)
Alliance: disease page
Synonyms: congenital myopathy-5 with cardiomyopathy; Salih myopathy
Alt IDs: OMIM:611705, ORDO:289377
Definition: A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.