Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
0.010 GeneticVariation disease BEFREE We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. 25099252 2015