Disease: CORNELIA DE LANGE SYNDROME 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CORNELIA DE LANGE SYNDROME 4
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019