Charcot-Marie-Tooth disease type 4H
Findings
No curated finding names Charcot-Marie-Tooth disease type 4H yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy
Definition from the Mondo Disease Ontology (MONDO:0012250), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 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
- 6 of 6 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 2 of 2 reported patients
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 2 of 2 reported patients
- HypoesthesiaHPOHP:0033748
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 6 of 6 reported patients
- Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
- Unsteady gaitHPO
Show the remaining 5
- Distal lower limb muscle weaknessHPOHP:0009053
- Distal sensory impairmentHPOHP:0002936
- Peripheral hypomyelinationHPOHP:0007182
- Pes cavusHPOHP:0001761
- Waddling gaitHPOHP:0002515
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.
- FGD4HGNC:19125
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Charcot-Marie-Tooth disease type 4H
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4CMT4HFGD4 Charcot-Marie-Tooth disease type 4