Phenotype #0000302475

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410371
Associated disease	HARP
Phenotype details	electroretinogram: abnormal; electroretinogram loss pattern: mild rod-cone; ""eye-of-the-tiger"" sign: yes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	pantothenate kinase-associated neurodegeneration
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-25 10:27:39 +02:00 (CEST)
Date last edited	N/A

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