Phenotype #0000298329

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00405832
Associated disease	-
Phenotype details	severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors
Diagnosis/Initial	Leber congenital amaurosis (LCA)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-03-23 03:47:23 +01:00 (CET)
Date last edited	N/A

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