Global Variome shared LOVD

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Phenotype #0000281741 Individual ID 00388148 Associated disease - Phenotype details Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Depigmented fundi, ERG: Extinguished, additional features: Developmental delay, Molar tooth sign, Periodic apnea Diagnosis/Initial Joubert syndrome Inheritance Unknown Diagnosis/Definite Joubert syndrome Age/Examination 11y5m (11 years, 5 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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