Phenotype #0000229741

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302660
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., encephalopathy related to status epilepticus during slow sleep, mosaic father mildly affected
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Emanuela Leonardi
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-27 13:42:40 +02:00 (CEST)
Date last edited	N/A

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