Phenotype #0000281843

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388288
Associated disease	CLN
Phenotype details	Cognitive and motor deterioration, seizures, stereotypies, action myoclonus, partial optic atrophy, MRI signs of cortex, and cerebellar atrophy
Diagnosis/Initial	lipofuscinosis, ceroid, neuronal (CLN)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	lipofuscinosis, ceroid, neuronal, type 7 (CLN-7)
Age/Examination	5y (5 years)
Age/Onset	2y6m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-03 15:22:26 +01:00 (CET)
Date last edited	N/A

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