Global Variome shared LOVD

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Phenotype #0000333626 Individual ID 00444373 Associated disease OCCO Phenotype details see paper; ..., microphthalmia, intellectual disability, autistic features, craniofacial dysmorphy with scaphocephaly, no rhizomelic skeletal dysplasia; father isolated bilateral colobomatous microphthalmia Diagnosis/Initial coloboma Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-23 16:32:56 +01:00 (CET) Date last edited N/A

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