Global Variome shared LOVD

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Phenotype #0000309209 Individual ID 00417841 Associated disease BBS Phenotype details kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: four limbs26-week female fetus, enlarged hyperechogenic kidneys and hexadactyly of four limbs; autopsy: facial dysmorphism with a round face, hypertelorism, small flattened nose, micro-retrognathism and small ears, characteristic of Potter dysmorphism; histological examination of the kidneys: Meckel-like cyst size and number augmentation from the cortex to the medulla; lesions moderate, with persistence of corticomedullary differentiation and subcapsular nephrogenesis; liver histologically normal 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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