Phenotype #0000301079

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408961
Associated disease	-
Phenotype details	bilateral deafness at the age of 18 years and one-sided cochlear implant surgery at the age of 20 years.
Diagnosis/Initial	polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, early-onset cataracts (PHARC)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	12y
Phenotype/Onset	developed a slowly progressive hearing impairment
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-04-29 01:04:01 +02:00 (CEST)
Date last edited	N/A

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