Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
0.300 Biomarker disease CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013