Phenotype #0000333887

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444635
Associated disease	aciduria
Phenotype details	no newborn screening performed; 4m-deceased infection-induced acute metabolic acidosis, respiratory failure; hydroxoc-obalamin treatment not effective
Diagnosis/Initial	methylmalonic acidemia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MMA
Age/Examination	4m
Age/Diagnosis	-
Age/Onset	3d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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