Global Variome shared LOVD

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Phenotype #0000286016 Individual ID 00392770 Associated disease - Phenotype details BMI: 29.05, no polydactyly, no intellectual disability, external genital dysplasia, no renal abnormalities, hearing loss, no tooth abnormalities, normal height, high sinus heart rate, blood sugar normal, blood pressure slightly elevated, lipid levels normal–, best corrected visual acuity right/left eye: light perception/light perception, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: unrecordable, flash visual evoked potential: severely reduced amplitude, without 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 29y (29 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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