RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Disease: Single transverse palmar crease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019