LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Growth failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878787
Disease: Growth failure
Growth failure 		0.020 GeneticVariation phenotype BEFREE In contrast, we have recently found that biallelic mutations in LIG4 are a common cause of microcephalic primordial dwarfism (MPD), a phenotype characterized by prenatal-onset extreme global growth failure. 25728776 2015
CUI: C0878787
Disease: Growth failure
Growth failure 		0.020 Biomarker phenotype BEFREE Such growth failure is therefore sufficient to consider a diagnosis of LIG4 deficiency and early recognition of such cases is important as bone marrow failure, immunodeficiency, and sometimes malignancy are long term sequelae of this disorder. 24123394 2014