Global Variome shared LOVD

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Phenotype #0000281858 Individual ID 00388306 Associated disease - Phenotype details retinitis pigmentosa, polydactyly both hands, obesity, hypogonadism, cognitive Impairment, syndactyly both feet, 2–3 toes Diagnosis/Initial Bardet-Biedl syndrome (BBS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-11-04 08:27:28 +01:00 (CET) Date last edited N/A

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