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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4B3

Charcot-Marie-Tooth disease type 4B3

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3; Charcot-Marie-Tooth Neuropathy Type 4B3; Charcot-Marie-Tooth Neuropathy Type 4B3 (CMT4B3)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. [from SNOMEDCT_US]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT4B3, DENND7A, MTMR5, SBF1
    Summary: SET binding factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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