Global Variome shared LOVD

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Phenotype #0000284659 Individual ID 00391217 Associated disease - Phenotype details BMI: 30.8, rod-cone dystrophy, polydactyly, moderate intellectual disability, renal abnormalities, speech disorder, developmental delay, BBS10 c.145C > T Diagnosis/Initial Bardet-Biedl syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 5y (5 years) 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 2021-11-13 19:05:38 +01:00 (CET) Date last edited N/A

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