congenital myopathy 18 (DOID:0081350)
Alliance: disease page
Alt IDs: OMIM:620246
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.