Phenotype #0000275813

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00381971
Associated disease	-
Phenotype details	visual acuity : od: 0.1 , os: 0.2; fundus: no pathology, eccentric fixation; color vision: severely impaired; electroretinography: scotopic: normal, photopic: no response; photophobia: yes; nystagmus : yes; progression: no
Diagnosis/Initial	achromatopsia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	0y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-09-06 15:38:00 +02:00 (CEST)
Date last edited	N/A

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