Phenotype #0000185979

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00246127
Associated disease	AN
Phenotype details	best corrected visual acuity R/L 0.05/0.02; aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; esotropia; no ptosis; normal psychomotor development
Diagnosis/Initial	congenital aniridia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	AN-1
Age/Examination	64y (64 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-12 09:17:59 +02:00 (CEST)
Date last edited	N/A

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