Charcot-Marie-Tooth disease, axonal, type 2LL
MONDO:0980969Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, type 2LL 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
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
36 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- Atypical absence seizureHPOHP:0007270
- 1 of 1 reported patient
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 5 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Difficulty runningHPOHP:0009046
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 3 of 3 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 5 of 5 reported patients
- FasciculationsHPOHP:0002380
- 1 of 1 reported patient
- Fatty replacement of skeletal muscleHPOHP:0012548
- 1 of 1 reported patient
Show the remaining 24
- Fiber type groupingHPOHP:0033685
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- HammertoeHPOHP:0001765
- 1 of 1 reported patient
- HypoesthesiaHPOHP:0033748
- 1 of 1 reported patient
- Impaired tandem gaitHPOHP:0031629
- 2 of 2 reported patients
- Impaired toe-walking abilityHPOHP:0034052
- 2 of 2 reported patients
Where it sits
- A kind of