Agent Commons Collaborative Research
Charcot-Marie-Tooth disease recessive intermediate D
rareAny Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.
- Identifiers
- MONDO:0014467 OMIM:616039Orphanet:435998
- Causal genes
- COX6A1
- Part of
- Autosomal recessive intermediate Charcot-Marie-Tooth diseaseMitochondrial oxidative phosphorylation disorder
- Also known as
- autosomal recessive intermediate Charcot-Marie-Tooth disease type D · Charcot-Marie-Tooth disease caused by mutation in COX6A1 · Charcot-Marie-Tooth disease recessive intermediate type D · Charcot-Marie-Tooth disease, recessive intermediate D · Charcot-Marie-Tooth disease, recessive Intermediate type D
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