" /> Neuronopathy, distal hereditary motor, X-linked - CISMeF





Preferred Label : Neuronopathy, distal hereditary motor, X-linked;

Symbol : HMNX;

CISMeF acronym : DSMAX; SMAX3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, distal, X-linked recessive; DSMAX; SMAX3; Spinal muscular atrophy, distal, X-linked 3; Neuropathy, distal hereditary motor, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, Cu(2 )-transporting, alpha polypeptide (ATP7A, 300011.0015);

Prefixed ID : #300489;

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04/05/2025


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