Charcot-Marie-Tooth disease axonal type 2O
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2O 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 DYNC1H1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013644), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Slowly progressive
HPO, annotations 2026-09-02
Features
12 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.
- Distal muscle weaknessHPOHP:0002460
- 12 of 12 reported patients
- Pes cavusHPOHP:0001761
- 10 of 12 reported patients
- Motor delayHPOHP:0001270
- 8 of 13 reported patients
- HyporeflexiaHPOHP:0001265
- 7 of 12 reported patients
- Distal sensory impairmentHPOHP:0002936
- 6 of 12 reported patients
- Frequent fallsHPOHP:0002359
- 3 of 12 reported patients
- Delayed speech and language developmentHPOHP:0000750
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.
- DYNC1H1HGNC:2961
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2O
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2OCharcot-Marie-Tooth disease caused by mutation in DYNC1H1Charcot-Marie-Tooth disease, axonal, type 20CMT2ODYNC1H1 Charcot-Marie-Tooth disease