Phenotype #0000312251

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00421011
Associated disease	PKU
Phenotype details	blood level L-Phe 2909 umol/L at diagnosis
Diagnosis/Initial	hyperphenylalaninemia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-03 14:41:30 +01:00 (CET)
Date last edited	N/A

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