Global Variome shared LOVD

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Phenotype #0000245493 Individual ID 00327049 Associated disease - Phenotype details - Bilateral small optic nerves, nystagmus - Splitting between the inner nuclear and the outer plexiform layer in left eye consistent with retinoschisis -Congenital cataracts, nystagmus, retinoschisis OS Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset Congenital Protein - Owner name Lance P Doucette Database submission license No license selected Created by Lance P Doucette Date created 2021-01-19 18:37:13 +01:00 (CET) Date last edited 2021-01-21 13:34:07 +01:00 (CET)

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