Phenotype #0000303048

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410958
Associated disease	-
Phenotype details	VA: greatly diminished (only detect hand movements (both eyes)). Round cortical lens opacities were observed bilaterally. Pale optic discs and vascular attenuation were observed. See paper
Diagnosis/Initial	retinitis pigmentosa and sensorineural hearing loss
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Usher syndrome type IV
Age/Examination	60y (60 years)
Age/Diagnosis	-
Age/Onset	35y
Phenotype/Onset	nyctalopia
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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