Phenotype #0000347480

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459402
Associated disease	macular dystrophy
Phenotype details	see paper; ..., decreased vision; 12y-blurry vision; gastroesophageal reflux disease, testicular hydrocele, anxiety, acne; blunted foveal reflexes with pigmentary mottling macula; rregular foveal avascular zones, no leakage
Diagnosis/Initial	decreased vision
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-24 17:40:03 +01:00 (CET)
Date last edited	N/A

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