" /> 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;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.