ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018