Charcot-Marie-Tooth disease recessive intermediate D
Findings
No curated finding names Charcot-Marie-Tooth disease recessive intermediate D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014467), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- Distal sensory impairmentHPOHP:0002936
- Foot dorsiflexor weaknessHPOHP:0009027
- HyporeflexiaHPOHP:0001265
- Onion bulb formationHPOHP:0003383
- Peripheral neuropathyHPOHP:0009830
- Pes cavusHPOHP:0001761
- Steppage gaitHPOHP:0003376
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COX6A1HGNC:2277
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease recessive intermediate D
- Also called
- autosomal recessive intermediate Charcot-Marie-Tooth disease type DCharcot-Marie-Tooth disease caused by mutation in COX6A1Charcot-Marie-Tooth disease recessive intermediate type DCharcot-Marie-Tooth disease, recessive Intermediate type DCMTRIDCOX6A1 Charcot-Marie-Tooth diseaseRI-CMT type D