Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
0.010 GeneticVariation disease BEFREE Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. 28041799 2017