Global Variome shared LOVD

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Phenotype #0000309210 Individual ID 00417842 Associated disease BBS Phenotype details kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: lower limbs21-week male fetus; facial dysmorphism with retrognathism and hypoplastic nasal bone characteristic of Potter sequence; pulmonary artery stenosis and situs ambiguus where the stomach and spleen were localised on the right side with polysplenia; pancreas hypoplastic, with absence of the tail; histological examination of the kidneys: Meckel-like cyst size and number augmentation from the cortex to the medulla; pancreatic ducts were slightly dilated 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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