Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000227594 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 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International 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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