Global Variome shared LOVD

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Phenotype #0000340195 Individual ID 00451458 Associated disease argininemia Phenotype details Hypotonia, spasticity, short stature, decreased body weight, moderate intellectual disability, Attention deficit hyperactivity disorder Diagnosis/Initial Argininemia Inheritance Familial, autosomal recessive Diagnosis/Definite Argininemia Age/Examination - Age/Diagnosis 04y04m Age/Onset - 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 22:10:37 +02:00 (CEST) Date last edited 2024-06-24 17:02:20 +02:00 (CEST)

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