Global Variome shared LOVD

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Phenotype #0000286014 Individual ID 00392768 Associated disease - Phenotype details BMI: 24.44, polydactyly, no intellectual disability, ovarian dysplasia, no renal abnormalities, no hearing loss, no tooth abnormalities, short stature, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, nystagmus, strabismus, best corrected visual acuity right/left eye: 0.05/0.1, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: unrecordable, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: unrecordable Diagnosis/Initial Bardet-Biedl Syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl Syndrome Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset <5y 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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