Charcot-Marie-Tooth disease, axonal, type 2FF
MONDO:0030433Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, type 2FF 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 · Middle age onset · 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.
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 1 of 1 reported patient
- Peripheral neuropathyHPOHP:0009830
- 4 of 4 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 3 of 4 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 3 of 4 reported patients
- Distal amyotrophyHPOHP:0003693
- 2 of 4 reported patients
- Weakness of the intrinsic hand musclesHPOHP:0009005
- 2 of 4 reported patients
- Absent Achilles reflexHPOHP:0003438
- 1 of 4 reported patients
- AreflexiaHPOHP:0001284
- 1 of 4 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 4 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 1 of 4 reported patients
- Distal sensory impairmentHPOHP:0002936
- 1 of 4 reported patients
Show the remaining 11
- Distal upper limb amyotrophyHPOHP:0007149
- 1 of 4 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 1 of 4 reported patients
- Hypernasal speechHPOHP:0001611
- 1 of 4 reported patients
- Muscle spasmHPOHP:0003394
- 1 of 4 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 4 reported patients
- Pes planusHPOHP:0001763
- 1 of 4 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.
- CADM3HGNC:17601
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · ClinGen · Autosomal dominant · 2026
- Limited · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Charcot-Marie-Tooth disease, axonal, type 2FF
- Also called
- Charcot-Marie-Tooth neuropathyCMT2FF