Phenotype #0000227594

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00300286
Associated disease	CDSP
Phenotype details	C0 (free carnitine) value tested by MS/MS: 11.6μmol/L at birth, 4.3μmol/L at 3 years old (reference for C0: 10-60μmol/L)
Diagnosis/Initial	none
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	systemic primary carnitine deficiency
Age/Examination	00y00m03d (3 days)
Age/Diagnosis	03y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Wenjuan Qiu
Database submission license
Created by	Wenjuan Qiu
Date created	2020-04-28 08:37:09 +02:00 (CEST)
Date last edited	2020-05-03 15:29:39 +02:00 (CEST)

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