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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 DISEASE, DEMYELINATING, 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

38 tests are in the database for this condition.

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Clinical tests (38 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

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Imported from Human Phenotype Ontology (HPO)

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