Phenotype #0000273392

Individual ID 00379519
Associated disease -
Phenotype details Normal optic disc, slightly attenuated vasculature, absent foveolar reflex, irregular pigmentation with many small white dots in mid-periphery.
Diagnosis/Initial retinitis punctata albescens (RPA)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-08-05 00:17:46 +02:00 (CEST)
Date last edited N/A

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