Global Variome shared LOVD

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Phenotype #0000299876 Individual ID 00407729 Associated disease - Phenotype details retinal dystrophy affecting both rods and cones with onset of symptoms in early childhood (2-4 y) and progression to legal blindness in early adulthood (18-25 y); fundus: widespread atrophy of the retinal pigment epithelium, pronounced pigment deposits in the periphery, rarely seen in young individuals with retinal dystrophy with mutations in genes encoding other visual cycle components Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis 5y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-07 22:52:37 +02:00 (CEST) Date last edited N/A

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