Phenotype #0000345960

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457496
Associated disease	MTPD
Phenotype details	see paper; ..., recurrent rhabdomyolysis; normal developmental milestones, athletic, worked as railroad conductor; ankle reflexes markedly diminished
Diagnosis/Initial	mitochondrial trifunctional protein deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MTPD1
Age/Examination	53y (53 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	recurrent rhabdomyolysis
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-13 16:17:57 +01:00 (CET)
Date last edited	N/A

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