Global Variome shared LOVD

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Phenotype #0000278951 Individual ID 00385155 Associated disease - Phenotype details HP:0000548 Cone/cone-rod dystrophy; HP:0010442 Polydactyly; HP:0001513 Obesity; HP:0001263 Global developmental delay; HP:0011003 Severe Myopia; Diagnosis/Initial Bardet-Biedl syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 9y (9 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 2021-10-08 17:29:22 +02:00 (CEST) Date last edited N/A

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