Name

CMT2H Gene

Charcot-Marie-Tooth disease, axonal, type 2H

CMT2G Gene

Charcot-Marie-Tooth disease, axonal, type 2G

CNTN2 Gene

contactin 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 Gene

Hereditary motor and sensory neuropathy V

NMSR Gene

Neuropathy, hereditary motor and sensory, Russe type

HSN1B Gene

Hereditary sensory neuropathy, type IB

SCA18 Gene

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

HMSNO Gene

Neuropathy, hereditary motor and sensory, Okinawa type