Disease: Rett Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 GeneticVariation disease BEFREE Patient 3 had a novel mutation in GABRD gene.She showed Rett syndrome like features. 25156961 2015