Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000061323 Individual ID 00081689 Associated disease GLC3A Phenotype details increased intraocular pressure (HP:0007906) OD/OS 44/30; cup to disc ratio 0.8/no view; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 2y (2 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 2016-10-18 23:25:02 +02:00 (CEST) Date last edited N/A

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