Phenotype #0000299273

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00406823
Associated disease	-
Phenotype details	no photophobia, night blindness , visual acuity: 20/150, refraction in DS.: 1, electroretinogram: flat, non-progressive, minimal nystagmus, pallor of disc, distinct bull�s-eye-like lesion in macula; mottling of retinal architecture
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-05 14:08:57 +02:00 (CEST)
Date last edited	N/A

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