Global Variome shared LOVD

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Phenotype #0000279139 Individual ID 00385343 Associated disease - Phenotype details retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHyperphagia, Vocal cord web, Sleep apnea Diagnosis/Initial Bardet–Biedl Syndrome (BBS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y7m (13 years, 7 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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