Phenotype #0000294357

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00401574
Associated disease	-
Phenotype details	Areflexia at age 22 months, CI Right Ear - 13 Left ear -24 months, Waxy optic discSlightly narrow retinal vessels, atrophy encroaching the macula
Diagnosis/Initial	Usher syndrome type 1 (USH1)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	3y
Phenotype/Onset	Night blindness followed by peripheral VF constriction
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-02-01 10:38:45 +01:00 (CET)
Date last edited	N/A

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