Ullrich congenital muscular dystrophy 2

Term ID

DOID:0060944

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. https://pubmed.ncbi.nlm.nih.gov/24334604/

References

• OMIM:616470

Ontology

Human Disease   ( DOID:0060944 )