Phenotype #0000284228

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00390740
Associated disease	-
Phenotype details	Visual acuity right eye/left eye: hand movement_hand movement, cone-rod dystrophy with bone spicule deposits and atrophy in the posterior pole and peripheral retina, macular atrophy
Diagnosis/Initial	Bardet-Biedl syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	9y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-11 19:27:39 +01:00 (CET)
Date last edited	N/A

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