Global Variome shared LOVD

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

Phenotype #0000333860 Individual ID 00444608 Associated disease aciduria Phenotype details newborn screening performed; 2y-deceased infection-induced acute metabolic acidosis; hydroxoc-obalamin treatment effective Diagnosis/Initial methylmalonic acidemia Inheritance Familial, autosomal recessive Diagnosis/Definite MMA Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 3m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-27 15:19:13 +01:00 (CET) Date last edited N/A

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