Global Variome shared LOVD

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Phenotype #0000352553 Individual ID 00467346 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, dyspnea Diagnosis/Definite GSD1A Phenotype details developmental delay, fever, anemia, hyperammonemia, intermittent generalized erythematous papular rash, goiter, hepatosplenomegaly, dystrophia, increased serum lactate Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 1y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 14:40:38 +02:00 (CEST) Date last edited N/A

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