Global Variome shared LOVD

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Phenotype #0000286022 Individual ID 00392776 Associated disease - Phenotype details BMI: 26.12, polydactyly, no intellectual disability, no gonadal abnormalities, no renal abnormalities, no hearing loss, tooth abnormalities, normal height, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, cataract, best corrected visual acuity right/left eye: hand movement/hand movement, fundus: optic disk pallor, osteocyte cell-like pigment deposition,, pattern visual evoked potential: –, flash visual evoked potential: unstable and severely reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: unrecordab Diagnosis/Initial Bardet-Biedl Syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl Syndrome Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset 6y 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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