Phenotype #0000273426

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00335840
Associated disease	PARK14
Phenotype details	progressive asymmetric parkinsonian syndrome, with rigidity, hypokinesia, resting and postural tremor predominantly on the right, cognitive decline, cerebellar atrophy and brain iron accumulation.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	43y
Age/Onset	32y
Phenotype/Onset	-
Protein	PLA2G6
Owner name	Ivano Di Meo
Database submission license
Created by	Ivano Di Meo
Date created	2021-08-05 16:48:46 +02:00 (CEST)
Date last edited	2021-08-06 18:42:26 +02:00 (CEST)

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