Global Variome shared LOVD

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Phenotype #0000061335 Individual ID 00081701 Associated disease GLC3A Phenotype details increased intraocular pressure (HP:0007906) OD/OS 38/?; cup to disc ratio no view/no view; visual acuity hand movement/no light perception; increased corneal diameter (HP:0000485); right buphthalmos (HP:0000557); left phthisical eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 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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