Global Variome shared LOVD

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Phenotype #0000235221 Individual ID 00309905 Associated disease PBD Phenotype details born at term, low birth weight; 1d-tyypical Zellweger facies, talibes, hypotonia; liver enzymes slightly elevated; MRI brain prominent ventricles, wideningsulci and sylivian fissures, cerebellar vermis hypoplasia; died 8m Diagnosis/Initial Zellweger syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2020-09-06 10:34:12 +02:00 (CEST) Date last edited 2020-09-06 10:39:02 +02:00 (CEST)

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