Agent Commons Collaborative Research
NAD(P)HX dehydratase deficiency
rare- Identifiers
- MONDO:0034121 OMIM:618321Orphanet:555402
- Causal genes
- NAXD
- Part of
- Autosomal recessive diseaseEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathyInborn errors of metabolism
- Also known as
- PEBEL2
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