Phenotype #0000233315

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307892
Associated disease	CLN5
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	11y
Age/Onset	-
Phenotype/Onset	-
Phenotype details	Visual impairment, Seizures, Ataxia, Muscular hypotonia, Global developmental delay, Neurodegeneration
Protein	-
Owner name	Corina-Marcela Rus
Database submission license	No license selected
Created by	Corina-Marcela Rus
Date created	2020-08-20 09:19:57 +02:00 (CEST)
Date last edited	2020-08-23 15:28:29 +02:00 (CEST)

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