Global Variome shared LOVD

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Phenotype #0000340311 Individual ID 00451650 Associated disease HHF6 Phenotype details Hypoglicemia, Hyperammonemia. Co-ocorrence of Hemolytic anemia, G6PD deficient (favism) (OMIM: 300908) Diagnosis/Initial Hypoglicemia Inheritance Familial, autosomal dominant Diagnosis/Definite Hyperinsulinismhyperammonemia syndrome Age/Examination 11y (11 years) Age/Diagnosis 12y Age/Onset - Phenotype/Onset - 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 2024-06-20 21:32:18 +02:00 (CEST) Date last edited 2024-06-28 10:12:20 +02:00 (CEST)

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