Term Name:	congenital myopathy 29
Synonyms:	congenital myopathy 28 with contractures
Definition:	A congenital myopathy characterized by hypotonia, distal joint contractures, and early respiratory and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the dystonin gene on chromosome 6p12.
Ontology:	Human Disease [DOID:0061260]   ( DOID:0061260 )