Global Variome shared LOVD

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Phenotype #0000347607 Individual ID 00459530 Associated disease PRLTS Phenotype details see paper; ..., lactic acidosis; MRI brain normal; epilepsy; no renal dysfunction; no retinopathy; hepatomegaly; transient liver failure; 6m-height 6 cm Diagnosis/Initial Perrault-syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-08 10:12:39 +01:00 (CET) Date last edited N/A

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