Phenotype #0000291789

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398707
Associated disease	-
Phenotype details	visual acuity: , electroretinogram, dark adapted rod response (b, µV) 166; dark adapted mixed rod-cone (average): a: 98/b: 310, light adapted 30Hz cone flicker: nondetectabl
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-01-10 12:03:07 +01:00 (CET)
Date last edited	N/A

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