Term Name:	centronuclear myopathy 5
Synonyms:	CNM5
Definition:	An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35.
Ontology:	Human Disease [DOID:0111222]   ( DOID:0111222 )