Charcot-Marie-Tooth disease type 2B5
Findings
No curated finding names Charcot-Marie-Tooth disease type 2B5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
Definition from the Mondo Disease Ontology (MONDO:0016454), 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.
- NEFLHGNC:7739
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease type 2B5
- Also called
- AR-CMT2B5autosomal recessive Charcot-Marie-Tooth disease type 2B5SEOAN due to NEFL deficiencysevere early-onset axonal neuropathy due to light neurofilament subunit deficiencysevere early-onset axonal neuropathy due to NEFL deficiency