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 We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. 28548707 2017