Phenotype #0000229890

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00302808
Associated disease	NBIA
Phenotype details	see paper; ..., 10y-bilateral spasticity, brain MRI abnormalities in globus pallidus, optic atrophy, psychiatric symptoms
Diagnosis/Initial	neurodegeneration with brain iron accumulation
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	1y (1 year)
Age/Onset	10y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-01 11:51:13 +02:00 (CEST)
Date last edited	N/A

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