Term Name:	congenital myopathy 18
Synonyms:
Definition:	A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
Ontology:	Human Disease [DOID:0081350]   ( DOID:0081350 )