Charcot-Marie-Tooth disease type 4
MONDO:0018995Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
Definition from the Mondo Disease Ontology (MONDO:0018995), read 2026-09-29. CC BY 4.0.
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.
- PRXHGNC:13797
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (12)
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4D
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4F
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Charcot-Marie-Tooth disease type 4K
Other names
3 names
Resolves to: Charcot-Marie-Tooth disease type 4
- Also called
- AR-CMT1autosomal recessive demyelinating Charcot-Marie-ToothCMT4