Global Variome shared LOVD

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Phenotype #0000302129 Individual ID 00410020 Associated disease - Phenotype details no apparent pigmentation at the time of the last ophthalmologic examination Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset <10y Phenotype/Onset night blindness Protein S50del mutation accelerates the transcriptional activation ability of NRL and decreases its phosphorylation level Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-17 20:49:15 +02:00 (CEST) Date last edited N/A

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