Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000280716 Individual ID 00386916 Associated disease - Phenotype details Night blindness for over 40y; hearing impairment gradually; bilateral retinal arteriolar attenuation, widespread RPE atrophy, pigment deposition, grey flecks around macular area, pale optic disc Diagnosis/Initial Usher syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-26 17:11:18 +02:00 (CEST) Date last edited N/A

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