Global Variome shared LOVD

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Phenotype #0000299923 Individual ID 00407793 Associated disease - Phenotype details - Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-08 15:01:03 +02:00 (CEST) Date last edited N/A

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