Global Variome shared LOVD

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Phenotype #0000309208 Individual ID 00417840 Associated disease BBS Phenotype details kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: right foot, right hand23-week female fetus, pregnancy terminated because of severe cystic kidneys and oligoamnios; autopsy: enlarged kidneys with nonetheless normal nephrogenesis, containing multiple thin-walled cysts along nephron segments and collecting ducts showing a gradient in the size of cysts from periphery to centre; parenchyme otherwise normal, without metaplastic cartilage Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-26 12:41:35 +02:00 (CEST) Date last edited N/A

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