Phenotype #0000279750

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00385949
Associated disease	-
Phenotype details	Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, Obese, learning disabilities, kidney cysts, kidney transplant, poor coordination
Diagnosis/Initial	BardetBiedl syndrome (BBS); polycystic kidney disease (PKD)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	10y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2021-10-19 12:24:34 +02:00 (CEST)
Date last edited	N/A

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