Global Variome shared LOVD

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Phenotype #0000300991 Individual ID 00408873 Associated disease - Phenotype details Vision: none; Mother had ter- mination of pregnancy for brain malfor- mation and microphthal- mia; affected fetus (patient 3Bc) carried the c.252delC mutation Diagnosis/Initial severe bilateral microphthalmia Inheritance Unknown Diagnosis/Definite - Age/Examination 12y11m (12 years, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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