Global Variome shared LOVD

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Phenotype #0000312774 Individual ID 00421568 Associated disease PKU Phenotype details see paper; ..., phenylketonuria, short stature, pathological electro-oculography both eyes, with high affectation of relative electrogenesis of the photoreceptor-pigment epithelium complex Diagnosis/Initial phenylketonuria Inheritance Familial, autosomal recessive Diagnosis/Definite PKU Age/Examination 05y (5 years) 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 2022-11-07 14:53:54 +01:00 (CET) Date last edited N/A

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