Global Variome shared LOVD

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Phenotype #0000308420 Individual ID 00416908 Associated disease EVR2 Phenotype details whole family description: characteristic ophthalmological findings of Norrie disease; but no mental retardation or hearing abnormality Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite familial exudative vitreoretinopathy 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 2022-09-09 19:20:30 +02:00 (CEST) Date last edited N/A

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