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Metadata
ID	DOID:0060942
Name	Ullrich congenital muscular dystrophy 1B
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. https://pubmed.ncbi.nlm.nih.gov/23622361/
Xrefs	MIM:620727
Parent Relationships	is_a Ullrich congenital muscular dystrophy
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance