Charcot-Marie-Tooth disease axonal type 2Z
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2Z 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 MORC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014736), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
88 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.
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 4 of 4 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 4 of 4 reported patients
- Abnormality of peripheral somatosensory evoked potentialsHPOHP:0100290
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
Show the remaining 76
- Abnormal motor nerve conduction velocityHPOHP:0040131
- Frequent (30% to 79% of cases)
- Abnormal peripheral myelinationHPOHP:0003130
- Frequent (30% to 79% of cases)
- Decreased distal sensory nerve action potentialHPOHP:0007230
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Distal amyotrophyHPOHP:0003693
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
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.
- MORC2HGNC:23573
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2Z
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutationCharcot-Marie-Tooth disease caused by mutation in MORC2Charcot-Marie-Tooth disease, axonal, type 2zCMT2ZMORC2 Charcot-Marie-Tooth disease