Global Variome shared LOVD

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Phenotype #0000334369 Individual ID 00445116 Associated disease ? Diagnosis/Initial oculofaciocardiodental syndrome Diagnosis/Definite MCOPS2 Phenotype details 42y/13y; congenital cataract, microphthalmia, glaucoma (1), retinal detachment (1); septate nasal cartilage, long/narrow face (1), simple ears (2); atrial septal defect, ventricular septal defect, patent ductus arteriosus, tricuspid valve insufficiency (2); root radiculomegaly, hypodontia; hammer toes (2), short fingers (1); cerebral atrophy (2), attention deficit hyperactivity disorder (2) Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-02 21:05:38 +01:00 (CET) Date last edited N/A

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