" /> Charcot-marie-tooth disease, dominant intermediate C - CISMeF





Preferred Label : Charcot-marie-tooth disease, dominant intermediate C;

Symbol : CMTDIC;

CISMeF acronym : CMTDIC; DI-CMTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, dominant intermediate C; DI-CMTC;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tyrosyl-tRNA synthetase gene (YARS, 603623.0001);

Prefixed ID : #608323;

Details


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29/04/2025


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