Global Variome shared LOVD

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Phenotype #0000325268 Individual ID 00435026 Associated disease favism Phenotype details G6PD deficiency in a male identified through newborn screening (G6PD-1125). Also, the same variant was identified in his heterozygous mother, and in another unrelated hemizygous male (G6PD-780) also carrying G6PD deficiency identified by newborn screening. Diagnosis/Initial G6PD deficiency Inheritance Familial, X-linked Diagnosis/Definite G6PD deficiency Age/Examination 01y06m (1 year, 6 months) Age/Diagnosis 00y01m Age/Onset - Phenotype/Onset - Protein malcantaraortigoza Owner name Miguel Angel Alcántara-Ortigoza Database submission license Creative Commons Attribution 4.0 International Created by Miguel Angel Alcántara-Ortigoza Date created 2023-04-20 04:02:07 +02:00 (CEST) Date last edited 2023-05-26 10:26:14 +02:00 (CEST)

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