Charcot-Marie-Tooth disease type 4G
Findings
No curated finding names Charcot-Marie-Tooth disease type 4G yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
Definition from the Mondo Disease Ontology (MONDO:0011534), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
36 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
- 21 of 21 reported patients
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- 21 of 21 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 21 of 21 reported patients
- Very frequent (80% to 99% of cases)
- Distal sensory impairmentHPOHP:0002936
- 21 of 21 reported patients
- Very frequent (80% to 99% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- 21 of 21 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.
- HK1HGNC:4922
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease type 4G
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in HK1CMT4Ghereditary motor and sensory neuropathy, Russe typeHK1 Charcot-Marie-Tooth disease type 4HMSNR