Global Variome shared LOVD

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Phenotype #0000234847 Individual ID 00309527 Associated disease JBTS Phenotype details see paper; ..., developmental disability; abnormal eye movements; retinal dystrophy; no seizures; abnormal ERG Diagnosis/Initial Joubert syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite JBTS30 Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-28 16:43:54 +02:00 (CEST) Date last edited N/A

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