Term Name:	Ullrich congenital muscular dystrophy 1A
Synonyms:
Definition:	An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.
Ontology:	Human Disease [DOID:0060946]   ( DOID:0060946 )