Phenotype #0000294764

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	00402001
Associated disease	HPA
Diagnosis/Initial	hyperphenylalaninemia
Diagnosis/Definite	HPABH4A
Phenotype details	found by neonatal screening
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-03 19:04:56 +01:00 (CET)
Date last edited	N/A

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