Global Variome shared LOVD

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Phenotype #0000289750 Individual ID 00396589 Associated disease - Phenotype details Hydramnios, accessory spleen, absent 12th rib pair, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, hyperechogenic kidneys, renal cysts, ovarian cyst, abnormal genital system morphology, hepatic anomaly Diagnosis/Initial Bardet-Biedl syndrome (BBS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2021-12-16 13:33:12 +01:00 (CET) Date last edited N/A

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