Term Name: Ullrich congenital muscular dystrophy 2
Synonyms:
Definition: An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q.
Ontology: Human Disease [DOID:0060948]   ( DOID:0060948 )

Relationships
is a type of: Ullrich congenital muscular dystrophy