Genetics

CYP27A1 gene

CLN4 disease

GNAI3 gene

Distal hereditary motor neuropathy type V

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Pantothenate kinase-associated neurodegeneration

GPR101 gene

PRDX1 gene

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Guanidinoacetate methyltransferase deficiency

HAL gene

DARS2 gene