Term Name:	congenital myopathy 17
Synonyms:
Definition:	A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.
Ontology:	Human Disease [DOID:0081349]   ( DOID:0081349 )