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

Charcot-Marie-Tooth disease recessive intermediate B

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B; KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. [from ORDO]

Available tests

33 tests are in the database for this condition.

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Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID, KARS1
    Summary: lysyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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