CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

HMSN, X-LINKED

http://purl.bioontology.org/ontology/OMIM/302800

HMSN, X-LINKED

CMTX1

CMT2, FORMERLY

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED

CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1

HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED

CMTX

C0393808

Xq13.1

CX32

CMTX1

GJB1

http://purl.bioontology.org/ontology/OMIM/MTHU021643

http://purl.bioontology.org/ontology/OMIM/MTHU004242

http://purl.bioontology.org/ontology/OMIM/MTHU038265

http://purl.bioontology.org/ontology/OMIM/MTHU000474

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

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU004325

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU038263

http://purl.bioontology.org/ontology/OMIM/MTHU042354

http://purl.bioontology.org/ontology/OMIM/MTHU004053

http://purl.bioontology.org/ontology/OMIM/MTHU025490

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU000948

http://purl.bioontology.org/ontology/OMIM/MTHU000870

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU002847

http://purl.bioontology.org/ontology/OMIM/MTHU008008

http://purl.bioontology.org/ontology/OMIM/MTHU001811

http://purl.bioontology.org/ontology/OMIM/MTHU008011

http://purl.bioontology.org/ontology/OMIM/MTHU001665

http://purl.bioontology.org/ontology/OMIM/MTHU038262

http://purl.bioontology.org/ontology/OMIM/MTHU005587

http://purl.bioontology.org/ontology/OMIM/MTHU001126

http://purl.bioontology.org/ontology/OMIM/MTHU000282

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU001138

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

http://purl.bioontology.org/ontology/OMIM/MTHU042355

http://purl.bioontology.org/ontology/OMIM/MTHU042353

http://purl.bioontology.org/ontology/OMIM/MTHU008006

http://purl.bioontology.org/ontology/OMIM/MTHU008009

http://purl.bioontology.org/ontology/OMIM/MTHU008007

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

http://purl.bioontology.org/ontology/OMIM/MTHU068145

http://purl.bioontology.org/ontology/OMIM/MTHU001326

http://purl.bioontology.org/ontology/OMIM/MTHU000136

Phenotype description, molecular basis known.

302800

3

pound

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

Caused by mutation in the connexin-32 gene (GJB1, 304040.0001) [MOLECULAR BASIS]

Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS]

Heterozygous females more mildly affected than hemizygous males [MISCELLANEOUS]

Variable phenotype [MISCELLANEOUS]

Slow progression [MISCELLANEOUS]

Incomplete penetrance [MISCELLANEOUS]

Onset in childhood [MISCELLANEOUS]

Both demyelinating and axonal features [MISCELLANEOUS]

Upper limb involvement occurs later [MISCELLANEOUS]

T047