Global Variome shared LOVD

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Phenotype #0000347606 Individual ID 00459529 Associated disease PRLTS Phenotype details see paper; ..., bilateral sensorineural hearing loss; severity profound; hearing aids; 2y-lactic acidosis; no hypoglycemia; MRI brain diffuse leukodystrophy; epilepsy; severe intellectual disability; proximal tubulopathy; retinopathy; hepatomegaly; transient liver failure; 8y-height 107cm Diagnosis/Initial Perrault-syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 8y (8 years) Age/Diagnosis 8y 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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