Global Variome shared LOVD

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Phenotype #0000303367 Individual ID 00411291 Associated disease - Phenotype details night blindnesss (disease onset) in late childhood with preservation of central vision into the third or fourth decade; typical field losses, atrophic retinal pigment epithelial changes with characteristic bone spicule pigmentation; electroretinography: grossly reduced rod and cone function; similar features to the mother, affecting the lower fundus Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-10 13:51:43 +02:00 (CEST) Date last edited N/A

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