Phenotype #0000303046

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410956
Associated disease	-
Phenotype details	pericentral retinal pigment epithelium alteration that extended beyond the optic nerve, with midperipheral bone spicule-like disturbances; see paper
Diagnosis/Initial	Usher syndrome type 2 (USH2)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	44y (44 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	progressive nyctalopia, with a previous history of hearing impairment since infancy
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-05-31 18:45:49 +02:00 (CEST)
Date last edited	N/A

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