Phenotype #0000278325

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00384541
Associated disease	CLN
Phenotype details	-
Diagnosis/Initial	lipofuscinosis, ceroid, neuronal
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	lipofuscinosis, ceroid, neuronal, type 6
Age/Examination	10y (10 years)
Age/Onset	4y
Phenotype/Onset	Progressive motor and cognitive dysfunction
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-09-29 17:43:05 +02:00 (CEST)
Date last edited	N/A

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