Global Variome shared LOVD

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Phenotype #0000340193 Individual ID 00451456 Associated disease argininemia Phenotype details Spasticity, short stature, dental crowding, absence of secondary sex characteristics, cognitive regression Diagnosis/Initial Hyperargininemia Inheritance Familial, autosomal recessive Diagnosis/Definite Argininemia Age/Examination 07y (7 years) Age/Diagnosis 07y Age/Onset 14y06m Phenotype/Onset - Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-06-06 20:25:39 +02:00 (CEST) Date last edited 2024-06-18 16:14:50 +02:00 (CEST)

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