Term Name: Ullrich congenital muscular dystrophy 1C
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 or heterozygous mutation in the COL6A3 gene on chromosome 2q37.
Ontology: Human Disease [DOID:0060943]   ( DOID:0060943 )

Relationships
is a type of: Ullrich congenital muscular dystrophy