| Name |
|---|
CMT2H GeneCharcot-Marie-Tooth disease, axonal, type 2H |
CMT2G GeneCharcot-Marie-Tooth disease, axonal, type 2G |
CNTN2 Genecontactin 2 (axonal) This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016] |
HMSN5 GeneHereditary motor and sensory neuropathy V |
NMSR GeneNeuropathy, hereditary motor and sensory, Russe type |
HSN1B GeneHereditary sensory neuropathy, type IB |
SCA18 Genespinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) |
HMSNO GeneNeuropathy, hereditary motor and sensory, Okinawa type |