RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Disease: Patau syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152095
Disease: Patau syndrome
Patau syndrome 		0.010 GeneticVariation disease BEFREE With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers. 29278735 2018