Phenotype #0000289378

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00396216
Associated disease	-
Phenotype details	2 month: nystagmus, oculo-digital sign, photophobia,no fixation, nopacing, no eye contact
Diagnosis/Initial	Leber congenital amaurosis (LCA)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2021-12-15 12:47:34 +01:00 (CET)
Date last edited	N/A

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