autosomal dominant Charcot-Marie-Tooth disease type 2M
Findings
No curated finding names autosomal dominant Charcot-Marie-Tooth disease type 2M yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Definition from the Mondo Disease Ontology (MONDO:0016431), 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.
- DNM2HGNC:2974
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: autosomal dominant Charcot-Marie-Tooth disease type 2M
- Also called
- CMT2M