Global Variome shared LOVD

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Phenotype #0000308149 Individual ID 00416384 Associated disease - Phenotype details whole family description: bilateral glaucomatous optic neuropathy with a cup-to-disc ratio (CDR) >0.7 on fundoscopy with compatible glaucomatous visual field loss; intraocular pressure: >22 mmHg, and the anterior chamber angles: open; abnormal results on Heidelberg Retina Tomography (HRT) II testing Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite primary open angle glaucoma Age/Examination - Age/Diagnosis 6y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-29 21:19:29 +02:00 (CEST) Date last edited N/A

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