Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000335776 Individual ID 00446575 Associated disease IVA Inheritance Familial, autosomal recessive Phenotype details elevated isovaleryl carnitine, infantile hypotonia, severe neurodevelopmental disorder, patent ductus arteriosus, cryptorchidism, obesity, distinctive facial features, Diagnosis/Initial isovaleric acidemia Age/Examination 05y (5 years) Diagnosis/Definite isovaleric acidemia Age/Diagnosis 05y Age/Onset 01y Phenotype/Onset elevated isovaleryl carnitine Protein - Owner name Ke Wu Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Ke Wu Date created 2024-01-18 09:44:35 +01:00 (CET) Date last edited 2025-03-31 12:13:24 +02:00 (CEST)

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