Phenotype #0000281844

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388289
Associated disease	CLN
Phenotype details	Cognitive and motor deterioration, ataxia, epileptic paroxysms, and MRI signs of cerebellar subatrophy
Diagnosis/Initial	progressive myoclonic epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	progressive myoclonic epilepsy
Age/Examination	4y (4 years)
Age/Onset	1y9m
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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