Phenotype #0000028640

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00038097
Associated disease	LCA
Phenotype details	early onset blindness or severe visual impairment during 1st year of life with oculodigital signs and extinguished or severely reduced ERG; exclusion of other systemic diseases
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	night blindness and diffuse hyperpigmentation in the retina, with vascular attenuation
Protein	-
Owner name	Frans Cremers
Database submission license
Created by	Frans Cremers
Date created	2015-05-01 22:00:00 +02:00 (CEST)
Date last edited	N/A

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