U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease recessive intermediate D

Charcot-Marie-Tooth disease recessive intermediate D

Summary

A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. [from SNOMEDCT_US]

Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMTRID, COX6A, COX6AL, COX6A1
    Summary: cytochrome c oxidase subunit 6A1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.