Global Variome shared LOVD

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Phenotype #0000309226 Individual ID 00417853 Associated disease BBS Phenotype details ultrasound scan performed at 17+2 weeks: dysplastic kidneys with poor bladder filling and little amniotic fluid (oligoamnios); hexadactyly of the four limbs; hyperechogenic fetal bowel (II-III degree); choroid plexus cysts; transient clubfoot attitude; the mother woman recalled that she was born with partial hexadactyly of both hands; the digit was lost spontaneously on one side and was removed surgically on the other; termination of pregnancy 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 17:07:30 +02:00 (CEST) Date last edited N/A

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