Global Variome shared LOVD

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Phenotype #0000340298 Individual ID 00451637 Associated disease MSUD1A Phenotype details Global developmental delay, Spasticity, Amblyopia Diagnosis/Initial Maple syrup urine disease Diagnosis/Definite Maple syrup urine disease, type II Inheritance Familial, autosomal recessive Age/Examination - Age/Onset - Phenotype/Onset 03y06m Age/Diagnosis 00y03m 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 2024-06-17 23:58:33 +02:00 (CEST) Date last edited 2024-06-18 16:07:55 +02:00 (CEST)

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