Phenotype #0000278781

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00384997
Associated disease	-
Phenotype details	nyctalopia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.1/0.1
Diagnosis/Initial	Leber congenital amaurosis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-10-06 17:52:46 +02:00 (CEST)
Date last edited	N/A

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