Global Variome shared LOVD

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Phenotype #0000366536 Individual ID 00483770 Associated disease MSUD1A Phenotype details - Diagnosis/Initial MSUD by biochemical markers Diagnosis/Definite MSUD type 1a Inheritance Familial, autosomal recessive Age/Examination 00y00m15d (15 days) Age/Onset 00y00m05d Phenotype/Onset HP:0002033, HP:0011968, HP:0000737, HP:0001252, HP:0012758, HP:0001250, HP:0002789, HP:0001882, HP:0001942, HP:0001943 Age/Diagnosis 00y00m22d 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 2026-08-11 21:24:38 +02:00 (CEST) Date last edited 2026-08-12 10:36:03 +02:00 (CEST)

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