Search
Charcot-Marie-Tooth disease type 2J (CMT2J)
see Charcot-Marie-Tooth disease type 2
Genetics:
- autosomal dominant
- associated with defects in MPZ gene
Clinical manifestations:
- axonal peripheral neuropathy
- hearing loss
- pupillary abnormalities such as Adie pupil
Database Correlations
OMIM 607736
References
OMIM :accession 607736