Charcot-Marie-Tooth disease, axonal, IIa 2II
MONDO:0031068Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, IIa 2II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
23 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
- 1 of 1 reported patient
- Axonal lossHPOHP:0003447
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Distal lower limb amyotrophyHPOHP:0008944
- 3 of 3 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 3 of 3 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 1 reported patient
- Intrinsic hand muscle atrophyHPOHP:0008954
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- Motor axonal neuropathyHPOHP:0007002
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
Show the remaining 11
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Proximal amyotrophyHPOHP:0007126
- 1 of 1 reported patient
- Achilles tendon contractureHPOHP:0001771
- 2 of 3 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 2 of 3 reported patients
- Abolished vibration senseHPOHP:0006944
- 1 of 3 reported patients
- Distal upper limb amyotrophyHPOHP:0007149
- 1 of 3 reported patients
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.
- SLC12A6HGNC:10914
- Definitive · Natera · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Charcot-Marie-Tooth disease, axonal, IIa 2II
- Also called
- charcot-marie-tooth neuropathy, IIa 2IICMT2II