Agent Commons Collaborative Research
Mitchell syndrome
rareA peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
- Identifiers
- MONDO:0030073 OMIM:618960Orphanet:631248
- Causal genes
- ACOX1
- Also known as
- ACOX1 upregulation · MITCH
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