Global Variome shared LOVD

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Phenotype #0000290781 Individual ID 00397654 Associated disease - Phenotype details eye phenotype characteristic of Leber congenital amaurosis, retinal coloboma, mental retardation/psychomotor retardation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Joubert syndrome Age/Examination - 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 2021-12-27 16:15:49 +01:00 (CET) Date last edited N/A

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