Phenotype #0000061320

Individual ID 00081686
Associated disease GLC3A
Phenotype details increased intraocular pressure (HP:0007906) OD/OS 40/32; cup to disc ratio 0.7/0.4; visual acuity light perception/hand movement; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); corneal opacity (HP:0007957)
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 InternationalCreative Commons License
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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