Global Variome shared LOVD

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Phenotype #0000309211 Individual ID 00417843 Associated disease BBS Phenotype details kidneys: cystic kidneys similar to that observed in Meckel syndrome; polydactyly: lower limbs22-week female fetus Meckel-like cystic kidneys; Potter sequence with dysmorphism and contracted limbs; liver: normal, previous pregnancy (11 years ago) terminated because of cystic kidneys and hexadactyly 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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