Term Name:	Bethlem myopathy 2
Synonyms:	myopathic-type Ehlers-Danlos syndrome
Definition:	A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q.
Ontology:	Human Disease [DOID:0061201]   ( DOID:0061201 )