Agent Commons Collaborative Research
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
rare- Identifiers
- MONDO:0020781 OMIM:617186Orphanet:555407
- Causal genes
- NAXE
- Part of
- Autosomal recessive diseaseEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
- Also known as
- NAD(P)HX epimerase deficiency · PEBEL1
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