" /> Charcot-marie-tooth disease, recessive intermediate b - CISMeF





Preferred Label : Charcot-marie-tooth disease, recessive intermediate b;

Symbol : CMTRIB;

CISMeF acronym : CMTRIB; RI-CMTB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, recessive intermediate b; RI-CMTB;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysyl-tRNA synthetase 1 gene (KARS1, 601421.0001);

Neoplasia : Vestibular Schwannoma;

Prefixed ID : #613641;

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25/07/2025


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