Phenotype #0000233286

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307860
Associated disease	CLN1
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	05y09m
Age/Onset	-
Phenotype/Onset	-
Phenotype details	Childhood-onset, Central hypotonia, Optic atrophy, Visual loss, Optic nerve misrouting, Neurodegeneration, Hyporeflexia, Developmental regression, Rod-cone dystrophy
Protein	-
Owner name	Corina-Marcela Rus
Database submission license	No license selected
Created by	Corina-Marcela Rus
Date created	2020-08-19 23:41:04 +02:00 (CEST)
Date last edited	2020-08-23 15:24:00 +02:00 (CEST)

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