Phenotype #0000345922

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457458
Associated disease	MTPD
Phenotype details	see paper; ..., hepatic, coma, convulsion, developmental delay; lactic acidemia, liver dysfunction; developmental delay
Diagnosis/Initial	mitochondrial trifunctional protein deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MTPD2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y09m
Phenotype/Onset	seizure, lactic acidosis
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-12 21:26:12 +01:00 (CET)
Date last edited	2024-11-16 16:33:06 +01:00 (CET)

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