Global Variome shared LOVD

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Phenotype #0000316147 Individual ID 00424948 Associated disease RP Diagnosis/Initial retinitis pigmentosa Diagnosis/Definite - Phenotype details night blindness since childhood, 37y-glare sensitivity; retinitis pigmentosa, myopic astigmatism, right eye cataract ; premature birth, weight 1500 g, hemiplegia after birth disappeared within an hour; osteomalacia; 52y-myocardial infarction Inheritance Familial, autosomal recessive Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset 37y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-23 21:41:14 +01:00 (CET) Date last edited N/A

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