Phenotype #0000235221

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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