U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4H

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H; Charcot-Marie-Tooth Neuropathy Type 4H; Charcot-Marie-Tooth Neuropathy Type 4H (CMT4H)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner. [from SNOMEDCT_US]

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4H, FRABP, ZFYVE6, FGD4
    Summary: FYVE, RhoGEF and PH domain containing 4

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.