Global Variome shared LOVD

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Phenotype #0000309974 Individual ID 00418638 Associated disease BBS Phenotype details McKusick-Kaufman / Bardet-Biedl syndrome borderline case; birth weight: 2 550 g with, length of 42 cm (< 3rd centile); head circumference of 31.3 cm (< 3rd centile); APGAR score: 1’(7)/5’ (8); postaxial hexadactyly a large abdominal mass displacing the intestine and elevating the diaphragms; abdominal magnetic resonance imaging: large cystic mass originating from the pelvic floor and hydrometrocolpos, fluid-filled that compressed and displaced the urinary bladder anteriorly; bladder catheter about 150 cc of brown fluid accumulated was drai Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 0m 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 2022-10-03 13:41:26 +02:00 (CEST) Date last edited N/A

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