Global Variome shared LOVD

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Phenotype #0000286021 Individual ID 00392775 Associated disease - Phenotype details BMI: 41.42, polydactyly, intellectual disability, no gonadal abnormalities, no renal abnormalities, no hearing loss, tooth abnormalities, short stature, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, exotropia, best corrected visual acuity right/left eye: 0.3/0.3, fundus: retinitis pigment disorder, pattern visual evoked potential: –, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: Diagnosis/Initial Bardet-Biedl Syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl Syndrome Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 8y 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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