Global Variome shared LOVD

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Phenotype #0000297162 Individual ID 00404578 Associated disease argininemia Phenotype details see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes Diagnosis/Initial argininemia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 11y Age/Onset 03y 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 2022-03-04 16:50:58 +01:00 (CET) Date last edited 2022-03-04 16:58:50 +01:00 (CET)

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