Charcot-Marie-Tooth disease, axonal, type 2KK
MONDO:0980963Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, type 2KK 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 · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
49 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 Achilles reflexHPOHP:0003438
- 5 of 5 reported patients
- Absent patellar reflexesHPOHP:0006844
- 1 of 1 reported patient
- Calf muscle pseudohypertrophyHPOHP:0003707
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 5 of 5 reported patients
- Demyelinating motor neuropathyHPOHP:0007220
- 1 of 1 reported patient
- Distal lower limb muscle weaknessHPOHP:0009053
- 12 of 12 reported patients
- Distal muscle weaknessHPOHP:0002460
- 6 of 6 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 4 of 4 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 2 of 2 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 11 of 11 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
Show the remaining 37
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Hand muscle weaknessHPOHP:0030237
- 1 of 1 reported patient
- Impaired distal proprioceptionHPOHP:0006858
- 2 of 2 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 1 of 1 reported patient
- Impaired temperature sensationHPOHP:0010829
- 1 of 1 reported patient
- Impaired toe-walking abilityHPOHP:0034052
- 1 of 1 reported patient
Where it sits
- A kind of