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Charcot-Marie-Tooth disease recessive intermediate D | RareConnect | RareConnect.io

/mitochondrial oxidative phosphorylation disorder

/autosomal recessive intermediate Charcot-Marie-Tooth disease

/Charcot-Marie-Tooth disease recessive intermediate D

Charcot-Marie-Tooth disease recessive intermediate D

Rare Disease

MONDO:0014467

Also Known As

CMTRIDCOX6A1 Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease caused by mutation in COX6A1Charcot-Marie-Tooth disease recessive intermediate type DCharcot-Marie-Tooth disease, recessive Intermediate type DRI-CMT type Dautosomal recessive intermediate Charcot-Marie-Tooth disease type DCharcot-Marie-Tooth disease, recessive intermediate D

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616039 ↗

Orphanet

Orphanet:435998 ↗

GARD

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