Phenotype #0000278433

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00384643
Associated disease	-
Phenotype details	Polycystic kidney, Hematocolpos, polyuria, retinitis pigmentosa, brachydactyly
Diagnosis/Initial	Bardet-Biedl syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	16y (16 years)
Age/Diagnosis	6y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-10-04 14:30:22 +02:00 (CEST)
Date last edited	N/A

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