Global Variome shared LOVD

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Phenotype #0000279154 Individual ID 00385358 Associated disease - Phenotype details retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, HBP, Dislipidemia, Hyperinsulinemia, AsthmaDepression, OCD, Emotionally labile Diagnosis/Initial Bardet–Biedl Syndrome (BBS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 19y4m (19 years, 4 months) 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 2021-10-09 03:44:00 +02:00 (CEST) Date last edited N/A

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