Phenotype #0000293339

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00400299
Associated disease	USH
Diagnosis/Initial	-
Diagnosis/Definite	Usher syndrome type 2A
Phenotype details	fundus appearance: typical retinitis pigmentosa changes, night blindness, electroretinogram: no reaction, hearing impairment: severe, vestibular function normal
Inheritance	Familial, autosomal recessive
Age/Examination	23y (23 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-01-26 15:02:26 +01:00 (CET)
Date last edited	N/A

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