Ullrich congenital muscular dystrophy 1B (DOID:0060942)
Alliance: disease page
Alt IDs: OMIM:620727
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 COL6A2 gene on chromosome 21q22.