" /> Charcot-marie-tooth disease, demyelinating, type 4d - CISMeF





Preferred Label : Charcot-marie-tooth disease, demyelinating, type 4d;

Symbol : CMT4D;

CISMeF acronym : CMT4D; HMSNL; HMSN4D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HMSN4D; HMSNL; Neuropathy, hereditary motor and sensory, lom type; Charcot-marie-tooth neuropathy, type 4d; Charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-myc downstream regulated gene-1 (NDRG1, 605262.0001);

Prefixed ID : #601455;

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27/07/2025


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