Phenotype #0000279596

Individual ID 00385783
Associated disease -
Phenotype details audiometry: bilateral sensorineural deafness. Hearing was normal at birth, speech is normal, no balance problems, ffERG showed severe reduction in both scotopic and photopic responses. OCT revealed central macular atrophy. S4). Cataract in both eyes
Diagnosis/Initial Retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite Usher syndrome type III
Age/Examination 48y (48 years)
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset Nyctalopia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-15 12:48:29 +02:00 (CEST)
Date last edited N/A

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