Phenotype #0000061317

Individual ID 00081683
Associated disease GLC3A
Phenotype details increased intraocular pressure (HP:0007906) OD/OS 52/44, cup to disc ratio no view/no view, visual acuity no light perception/light perception, increased corneal diameter (HP:0000485), corneal edema (HP:0012040), corneal haze, spheroidal degeneration (HP:0007705)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 45y (45 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 22:12:23 +02:00 (CEST)
Date last edited N/A

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