Global Variome shared LOVD

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Phenotype #0000281738 Individual ID 00388145 Associated disease - Phenotype details Nystagmus: 5-6Hz pendular N, best corrected visual acuity right eye/left eye: 0.05/0.05, fundus: Pigmentary retinopathy, ERG: Severely reduced, additional features: Severe obesity, Polydactyly, Amenorrhea Diagnosis/Initial Bardet-Biedl syndrome Inheritance Unknown Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 23y10m (23 years, 10 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-02 11:59:44 +01:00 (CET) Date last edited N/A

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