19 2-hydroxyglutaric aciduria

206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency

216 Neuronal ceroid lipofuscinosis

254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form

255 Dopa-responsive dystonia

289573 Multiple mitochondrial dysfunctions syndrome

309152 GM2 gangliosidosis

35656 Coenzyme Q10 deficiency

35705 Neurometabolic disorder due to serine deficiency 1

371047 Congenital disorder of glycosylation with neurological involvement 3

385 Neurodegeneration with brain iron accumulation 1

497623 C12ORF65-related combined oxidative phosphorylation defect

506 Leigh syndrome

79189 Peroxisome biogenesis disorder