Phenotype #0000333856

Individual ID 00444604
Associated disease aciduria
Phenotype details newborn screening performed; 3m-deceased acute metabolic acidosis, respiratory failure, circulatory failure; hydroxoc-obalamin treatment not effective
Diagnosis/Initial methylmalonic acidemia
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMA
Age/Examination 3m
Age/Diagnosis -
Age/Onset 3d
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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