" /> Parkinsonism-dystonia 1, infantile-onset - CISMeF





Preferred Label : Parkinsonism-dystonia 1, infantile-onset;

Symbol : PKDYS1;

CISMeF acronym : DTDS; PKDYS; PKDYS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DTDS; Dopamine transporter deficiency syndrome; PKDYS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 6 (dopamine neurotransmitter transporter), member 3 gene (SLC6A3, 126455.0002);

Laboratory abnormalities : Increased CSF homovanillic acid (HVA); Normal CSF 5-hydroxyindoleacetic acid (5-HIAA);

Prefixed ID : #613135;

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27/07/2025


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