Phenotype #0000155595

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00091683
Associated disease	RD
Phenotype details	see paper; born at term, normal height, weight, head circumference, normal growth and neurocognitive development; 8m-nystagmus, visual function progressively decreased, ...
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	No license selected
Created by	Johan den Dunnen
Date created	2018-12-01 15:33:47 +01:00 (CET)
Date last edited	N/A

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