Phenotype #0000307906

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00416140
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 0.1/0.1; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: not available; optical coherence tomography: not available; nystagmus, past: yes, at present: yes; photophobia: yes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	8m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-23 17:29:26 +02:00 (CEST)
Date last edited	N/A

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