Phenotype #0000319607

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00428709
Associated disease	Crigler-Najjar
Diagnosis/Initial	Crigler-Najjar syndrome
Diagnosis/Definite	CN1
Phenotype details	see paper; ..., cerebellar symptoms, intellectual disability (IQ 80)
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	2023-01-08 10:41:18 +01:00 (CET)
Date last edited	N/A

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