HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

HMSN2C

http://purl.bioontology.org/ontology/OMIM/606071

HMSN2C

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C

HMSN IIC

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C

CMT2C

C1853710

12q24.1

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C

http://purl.bioontology.org/ontology/OMIM/MTHU000902

http://purl.bioontology.org/ontology/OMIM/MTHU004189

http://purl.bioontology.org/ontology/OMIM/MTHU004187

http://purl.bioontology.org/ontology/OMIM/MTHU004183

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU004191

http://purl.bioontology.org/ontology/OMIM/MTHU004185

http://purl.bioontology.org/ontology/OMIM/MTHU001005

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000326

http://purl.bioontology.org/ontology/OMIM/MTHU033511

http://purl.bioontology.org/ontology/OMIM/MTHU003955

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU002849

http://purl.bioontology.org/ontology/OMIM/MTHU000479

http://purl.bioontology.org/ontology/OMIM/MTHU033515

http://purl.bioontology.org/ontology/OMIM/MTHU033513

http://purl.bioontology.org/ontology/OMIM/MTHU002854

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU004186

http://purl.bioontology.org/ontology/OMIM/MTHU004184

http://purl.bioontology.org/ontology/OMIM/MTHU004182

http://purl.bioontology.org/ontology/OMIM/MTHU004700

http://purl.bioontology.org/ontology/OMIM/MTHU000325

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU033514

http://purl.bioontology.org/ontology/OMIM/MTHU037278

http://purl.bioontology.org/ontology/OMIM/MTHU001872

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU001467

http://purl.bioontology.org/ontology/OMIM/MTHU033512

Phenotype description, molecular basis known.

606071

3

pound

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

Phenotypic variability [MISCELLANEOUS]

Variable age at onset (range birth to 60 years) [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Clinical overlap with distal hereditary motor neuropathy type VII (dHMN VII, 158580) [MISCELLANEOUS]

Earlier onset associated with increased severity [MISCELLANEOUS]

Worsening of hand weakness with cold (in some) [MISCELLANEOUS]

Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008) [MOLECULAR BASIS]

T047