" /> Paroxysmal nonkinesigenic dyskinesia 1 - CISMeF





Preferred Label : Paroxysmal nonkinesigenic dyskinesia 1;

Symbol : PNKD1;

CISMeF acronym : DYT8; FPD1; PDC; PNKD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PDC; Dystonia 8; Choreoathetosis, familial paroxysmal; Paroxysmal dystonic choreoathetosis; Choreoathetosis, nonkinesigenic; Mount-reback syndrome; FPD1; DYT8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PNKD metallo-beta-lactamase domain-containing protein gene (PNKD, 609023.0001);

Prefixed ID : #118800;

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27/07/2025


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