" /> Pontocerebellar hypoplasia, type 13 - CISMeF





Preferred Label : Pontocerebellar hypoplasia, type 13;

Symbol : PCH13;

CISMeF acronym : PCH13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vacuolar protein sorting 51, S. Cerevisiae, homolog of, gene (VPS51, 615738.0001);

Laboratory abnormalities : Hypoglycosylation of serum transferrin (patient A); Abnormal liver enzymes (patient A);

Prefixed ID : #618606;

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06/07/2025


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