Phenotype #0000291383

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398259
Associated disease	-
Phenotype details	best-corrected visual acuity right/left eye: 0.1/0.1, refraction: 2.0/ 2.0, cone electroretinography: no response, color vision: none, photophobia, nystagmus
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Complete achromatopsia
Age/Examination	49y (49 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-01-03 16:29:56 +01:00 (CET)
Date last edited	N/A

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