Features include common findings: Lower limb muscle weakness, Hyporeflexia, and Pes cavus; and sometimes findings: Hearing loss (hearing impairment), Difficulty walking (gait disturbance), Lower limb amyotrophy, and Peripheral neuropathy and others. 24 total HPO annotations.

NEFL encodes neurofilament light chain (543 aa). Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. Highest expression in Brain Frontal Cortex BA9 (487.2 TPM) and Brain Cortex (328.6 TPM).

Charcot-Marie-Tooth disease, dominant intermediate G is associated with mutations in the NEFL gene on chromosome 8.

The NEFL protein participates in Transcription of NOTCH2NLB gene, GRIN1:GRIN2B NMDA receptors:DLG4:DLG1,DLG2,DLG3,DLG4:NEFL, and GRIN1:GRIN2 NMDA receptors:DLG4:DLG1,DLG2,DLG3,DLG4:NEFL pathways.

NEFL is classified as a druggable target with score 0.0.

Genetic testing for NEFL is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 common features.

No clinical trials have been registered for Charcot-Marie-Tooth disease, dominant intermediate G.

4 publications have been identified in PubMed for Charcot-Marie-Tooth disease, dominant intermediate G. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

• da Silva Gomes MVV (2026). [PMID: 41906391](https://pubmed.ncbi.nlm.nih.gov/41906391/). *J Peripher Nerv Syst*. [Case Report / Case Series]

• Pérez-López DO (2025). [PMID: 39975190](https://pubmed.ncbi.nlm.nih.gov/39975190/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

• Pérez-López DO (2025). [PMID: 40635134](https://pubmed.ncbi.nlm.nih.gov/40635134/). *Human molecular genetics*. [Basic Science / Preclinical]

• Cakar A (2025). [PMID: 39776111](https://pubmed.ncbi.nlm.nih.gov/39776111/). *European journal of neurology*. [Epidemiology / Natural History]