Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0743101
Disease: developmentally delayed
developmentally delayed
0.010 Biomarker phenotype BEFREE Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. 30829465 2019