Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
MONDO:0011898Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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
- 9 of 9 reported patients
- Impaired distal tactile sensationHPOHP:0006937
- 9 of 9 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 9 of 9 reported patients
- Impaired pain sensationHPOHP:0007328
- 9 of 9 reported patients
- Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 9 of 9 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 9 of 9 reported patients
- Hoarse voiceHPOHP:0001609
- 6 of 9 reported patients
- Flexion contractureHPOHP:0001371
- 3 of 9 reported patients
- Neuropathic spinal arthropathyHPOHP:0008443
- 3 of 9 reported patients
- Ulnar clawHPOHP:0001178
- 3 of 9 reported patients
- Axonal degeneration/regenerationHPOHP:0003378
- 0 of 2 reported patients
Show the remaining 8
- Decreased distal sensory nerve action potentialHPOHP:0007230
- Decreased motor nerve conduction velocityHPOHP:0003431
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- Distal amyotrophyHPOHP:0003693
- Distal muscle weaknessHPOHP:0002460
- Peripheral axonal degenerationHPOHP:0000764
- Pes cavusHPOHP:0001761
- Vocal cord paresisHPOHP:0001604
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.
- GDAP1HGNC:15968
- Strong · PanelApp Australia · Autosomal recessive · 2025