Phenotype #0000298880

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00406393
Associated disease	-
Phenotype details	best corrected visual acuity: light perception, non-recordable electroretinogram, sandy diffuse peripheral pigmentary granularity and clumping, optic nerve atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-03-29 19:09:00 +02:00 (CEST)
Date last edited	N/A

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