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 InternationalCreative Commons License
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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