Phenotype #0000305723

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413758
Associated disease	-
Phenotype details	hypogammaglobulinemia; profound sensorineural hearing loss; right cochlear implant surgery was performed at 3 years; dense right cataract was noted at 2 years; a mild left, posterior subcapsular cataract became dense over 2 months; BCVA: 20/25 OD and 20/20 OS
Diagnosis/Initial	cataract and inner retinal dysfunction
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	4m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-07-22 03:34:11 +02:00 (CEST)
Date last edited	N/A

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