Phenotype #0000315315

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424108
Associated disease	-
Phenotype details	age, first / last exam: 38 / --; visual acuity right eye first; last visit, left eye first; last visit20/100, --; CF, --; kinetic visual fields (V4e): not performed; full field electroretinography: rods: near-normal, cones: near-normal, normal timing
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	macular dystrophy
Age/Examination	-
Age/Diagnosis	-
Age/Onset	30y
Phenotype/Onset	nyctalopia (30), impaired vision (32)
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-17 13:39:56 +01:00 (CET)
Date last edited	N/A

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