Disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749281
Disease: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 		0.300 GermlineCausalMutation phenotype ORPHANET Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276 2010