INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: Bowing of the long bones ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		0.010 GeneticVariation phenotype BEFREE We also identified that the fetuses had mild skeletal abnormalities, including shortening and bowing of long bones, which may expand the phenotypic spectrum associated with INVS mutations. 24677454 2014