Phenotype #0000233293

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307867
Associated disease	CLN2
Phenotype details	Intellectual disability, Seizures, Failure to thrive, Neurodegeneration, Generalized-onset seizure, Developmental regression
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	06y04m
Age/Onset	03y
Phenotype/Onset	-
Protein	-
Owner name	Corina-Marcela Rus
Database submission license	No license selected
Created by	Corina-Marcela Rus
Date created	2020-08-20 00:46:20 +02:00 (CEST)
Date last edited	2020-08-23 15:29:16 +02:00 (CEST)

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