Global Variome shared LOVD

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Phenotype #0000249926 Individual ID 00331734 Associated disease - Phenotype details retinitis pigmentosa, intellectual disability, overweight since infancy, brachydactyly, chronic renal failure, renal transplant Diagnosis/Initial Bardet-Biedl syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-13 09:57:26 +01:00 (CET) Date last edited N/A

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