Charcot-Marie-Tooth disease, axonal, Type 2HH
MONDO:0030458Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, Type 2HH 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
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
27 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- StridorHPOHP:0010307
- 8 of 8 reported patients
- Vocal cord paresisHPOHP:0001604
- 8 of 8 reported patients
- Pes cavusHPOHP:0001761
- 6 of 8 reported patients
- Areflexia of lower limbsHPOHP:0002522
- 5 of 8 reported patients
- Areflexia of upper limbsHPOHP:0012046
- 4 of 8 reported patients
- Distal muscle weaknessHPOHP:0002460
- 4 of 8 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 4 of 8 reported patients
- Impaired temperature sensationHPOHP:0010829
- 4 of 8 reported patients
- Impaired pain sensationHPOHP:0007328
- 3 of 8 reported patients
- Night sweatsHPOHP:0030166
- 3 of 8 reported patients
- EdemaHPOHP:0000969
- 2 of 8 reported patients
Show the remaining 15
- First dorsal interossei muscle weaknessHPOHP:0003392
- 2 of 8 reported patients
- KyphoscoliosisHPOHP:0002751
- 2 of 8 reported patients
- PolyminimyoclonusHPOHP:0031986
- 2 of 8 reported patients
- ScoliosisHPOHP:0002650
- 2 of 8 reported patients
- TremorHPOHP:0001337
- 2 of 8 reported patients
- Clubbing of fingersHPOHP:0100759
- 1 of 8 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.
- JAG1HGNC:6188
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: Charcot-Marie-Tooth disease, axonal, Type 2HH
- Also called
- CMT2HH