congenital muscular torticollis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. (Human Phenotype Ontology, HP_0005988)
External Link
Similar Terms
Downloads & Tools


6 genes associated with the congenital muscular torticollis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
MEOX1 mesenchyme homeobox 1