Global Variome shared LOVD

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Phenotype #0000281737 Individual ID 00388144 Associated disease - Phenotype details Nystagmus: 2Hz pendular N, best corrected visual acuity right eye/left eye: 0.2/0.3, fundus: Peripheral pigmentary retinopathy, ERG: Severely reduced, additional features: Developmental delay, Molar tooth sign, Cerebellar atrophy Diagnosis/Initial Joubert syndrome Inheritance Unknown Diagnosis/Definite Joubert syndrome Age/Examination 24y4m (24 years, 4 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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