Phenotype #0000034280

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00046589
Associated disease	LCA9
Phenotype details	see paper; age 2-30y, light perception vision, congenital visual loss, nystagmus, nyctalopia, 8/8 have acquired macular colobomas, cataracts (PSCC), white retinal dots, retinal pigment, 1/8 has keratoconus, …
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-07-19 22:03:51 +02:00 (CEST)
Date last edited	N/A

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