Phenotype #0000233312

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307889
Associated disease	CLN5
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	06y10m
Age/Onset	05y
Phenotype/Onset	-
Phenotype details	Ataxia, Absence seizure, Frequent falls, Developmental regression, Abnormality of the cerebral white matter
Protein	-
Owner name	Corina-Marcela Rus
Database submission license	No license selected
Created by	Corina-Marcela Rus
Date created	2020-08-20 08:31:36 +02:00 (CEST)
Date last edited	2020-08-23 15:28:02 +02:00 (CEST)

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