Global Variome shared LOVD

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Phenotype #0000353172 Individual ID 00468020 Associated disease ? Diagnosis/Initial pontocerebellar hypoplasia Diagnosis/Definite GLSP Phenotype details see paper; ..., prenatal increased nuchal translucency; 6m-poor head contro, delayed motor development; 16m-severe truncal titubation, limb ataxia, no sitting, symmetric brisk deep tendon reflexes, alternating strabismus; severe pontocerebellar hypoplasia Inheritance Isolated (sporadic) Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-06 15:47:36 +01:00 (CET) Date last edited N/A

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