CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.010 Biomarker phenotype BEFREE A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. 29510241 2018