label: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2
label_lc: early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2
description: An autosomal recessive condition caused by mutation(s) in the NAXD gene, encoding ATP-dependent (S)-NAD(P)H-hydrate dehydratase.