Phenotype #0000345924

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457460
Associated disease	MTPD
Phenotype details	see paper; ..., 4m-hypoparathyroidism; 3y-rhabdomyolysis; 3y-peripheral polyneuropathy; no hypotonia; no liver dysfunction
Diagnosis/Initial	mitochondrial trifunctional protein deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MTPD2
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	03y
Phenotype/Onset	rhabdomyolysis
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-12 22:25:25 +01:00 (CET)
Date last edited	2024-11-16 16:45:14 +01:00 (CET)

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