Global Variome shared LOVD

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Phenotype #0000309922 Individual ID 00418586 Associated disease BBS Phenotype details retinitis pigmentosa; mental retardation; morbid obesity (body mass index > 50); postaxial polydactyly, lobulated kidneys with prominent calyces and diabetes mellitus (diagnosed at 33y) 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 2022-09-30 14:21:01 +02:00 (CEST) Date last edited N/A

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