Charcot-Marie-Tooth disease X-linked recessive 4
Findings
No curated finding names Charcot-Marie-Tooth disease X-linked recessive 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
Definition from the Mondo Disease Ontology (MONDO:0010689), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 2 of 2 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 2 of 2 reported patients
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Very frequent (80% to 99% of cases)
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.
- AIFM1HGNC:8768
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
14 names
Resolves to: Charcot-Marie-Tooth disease X-linked recessive 4
- Also called
- axonal motor sensory neuropathy with deafness and intellectual disabilityCharcot-Marie-Tooth disease with deafness and intellectual disabilityCharcot-Marie-Tooth disease with deafness and mental retardationCharcot-Marie-Tooth disease X-linked recessive type 4Charcot-Marie-Tooth disease, X-linked recessive, 4CMT4XCMTX 4CMTX4cowchock syndromeCowchock syndrome, X-linked recessiveCOWCKNADMRNAMSDX-linked Charcot-Marie-Tooth disease type 4