Phenotype #0000294367

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00401584
Associated disease	-
Phenotype details	no cochlear implant, Waxy optic nerve, narrow retinal vessels, diffuse retinal atrophy involving the macula
Diagnosis/Initial	Usher syndrome type 1 (USH1)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	Night blindness, Photophobia
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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