Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 GeneticVariation phenotype BEFREE Pathogenic variants in GRIN1 are a well-known cause of infantile encephalopathy characterized by profound developmental delay (DD), variable epileptic phenotypes, and distinctive behavioral abnormalities. 31176596 2019