Phenotype #0000301043

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Arleen D. Auerbach

Individual ID	00408925
Associated disease	-
Phenotype details	Nystagmus since birth altered pupillary reflexes, Keratoconus
Diagnosis/Initial	leber congenital amaurosis (LCA)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	31y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-04-29 01:04:01 +02:00 (CEST)
Date last edited	N/A

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