Term Name:	congenital myopathy 2B
Synonyms:
Definition:	A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.
Ontology:	Human Disease [DOID:0081339]   ( DOID:0081339 )