Phenotype #0000347622

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459546
Associated disease	RD
Phenotype details	see paper; ... early childhood severe visual loss; visual acuity 3/60 OD, counting fingers OS, nystagmus, fundus appearance of bilateral generalized retinal atrophy, mild arteriolar attenuation
Diagnosis/Initial	neurodevelopmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LCA2
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-09 16:10:04 +01:00 (CET)
Date last edited	N/A

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