Global Variome shared LOVD

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Phenotype #0000295603 Individual ID 00402842 Associated disease PAPRS Phenotype details microphthalmia, retinal detachment, optic nerve aplasia. OS: iris coloboma, cataract, optic nerve aplasia, Neurodevelopmental delay, hypotonia, abnormality of the pinna. Diagnosis/Initial microphthalmia, retinal detachment Inheritance Familial, autosomal dominant Diagnosis/Definite papillorenal syndrome Age/Examination 00y04m (4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset microphthalmia (HP:0000568) Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2022-02-11 17:07:36 +01:00 (CET) Date last edited 2022-02-16 11:09:38 +01:00 (CET)

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