Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the NAXD gene, encoding ATP-dependent (S)-NAD(P)H-hydrate dehydratase.

**Synonyms:** - NAD(P)HX Dehydratase Deficiency - PEBEL2