Global Variome shared LOVD

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Phenotype #0000286018 Individual ID 00392772 Associated disease - Phenotype details BMI: 32.3, polydactyly, no intellectual disabilityno datano datano data, tooth abnormalities, short statureno datano datano datano data, cataract, best corrected visual acuity right/left eye: 0.05/0.05, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: unrecordable, flash visual evoked potential: –, full-field flash electroretinography: unrecordable, multifocal electroretinography: unrecordab Diagnosis/Initial Bardet-Biedl Syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl Syndrome Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-24 15:01:28 +01:00 (CET) Date last edited N/A

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