Phenotype #0000285586

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00392310
Associated disease	-
Phenotype details	uncorrected visual acuity right/left eye: no light perception, BMI: 28, nystagmus, polydactyly, genital anomalies, renal anomalies
Diagnosis/Initial	Bardet-Biedl Syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl Syndrome
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-22 14:12:46 +01:00 (CET)
Date last edited	N/A

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