EFHC2, EF-hand domain containing 2, 80258

N. diseases: 8; N. variants: 2
Disease: Norrie disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266526
Disease: Norrie disease
Norrie disease 		0.010 GeneticVariation disease BEFREE Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. 17431911 2007