MANBA is responsible for β-mannosidosis (#248510), UQCC2 for Mitochondrial complex III deficiency (#615824), KANSL1 for Kooln-de Vries Syndrome (#610443), AUH for 3-methylglutaconic aciduria type I (#250950), and both HIVEP2 and FOXP1 are related to syndromes with intellectual disability (#616977 and #613670, respectively). Here, HIVEP2 is linked to 3-methylglutaconic aciduria type 1.