Phenotype #0000345917

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457453
Associated disease	MTPD
Phenotype details	4m-hypoglycemia, hyperammonemia, mild liver dysfunction, 3 hydroxydicarboxylic aciduria; no cardiomyopathy, skeletal myopathy, neuropathy
Diagnosis/Initial	mitochondrial trifunctional protein deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MTPD2
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	03y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-12 16:31:43 +01:00 (CET)
Date last edited	2024-11-14 19:43:58 +01:00 (CET)

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