Phenotype #0000291360

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398051
Associated disease	?
Diagnosis/Initial	Developmental and epileptic encephalopathy
Diagnosis/Definite	Developmental and epileptic encephalopathy
Phenotype details	Developmental and epileptic encephalopathy with white matter abnormalities and cardiac disorders
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Marcello Scala
Database submission license
Created by	Marcello Scala
Date created	2022-01-03 12:02:52 +01:00 (CET)
Date last edited	2022-01-03 12:38:23 +01:00 (CET)

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