Phenotype #0000061335

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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