Phenotype #0000350705

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00464720
Associated disease	macular dystrophy
Phenotype details	macular dystrophy; nyctalopia, reduced visual acuity; extensive central chorioretinal atrophy; no neurological symptoms; impression of hearing loss in left ear; hypertension; type 2 diabetes
Diagnosis/Initial	macular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	62y (62 years)
Age/Diagnosis	-
Age/Onset	54y
Phenotype/Onset	nyctalopia, reduced visual acuity
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-04-14 14:18:03 +02:00 (CEST)
Date last edited	N/A

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