Global Variome shared LOVD

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Phenotype #0000299097 Individual ID 00406631 Associated disease - Phenotype details poor fixation noted during the first six months of life, sensory nystagmus, poor pupillary light reflex, essentially normal retinal appearance, with mild vascular attenuation, hyperopic refractions, abolished electroretinograms (performed early in the disease process) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-03 11:33:46 +02:00 (CEST) Date last edited N/A

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