Global Variome shared LOVD

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Phenotype #0000053546 Individual ID 00017814 Associated disease JBTS Phenotype details global developmental delay, hypotonia, ataxia, strabismus; neuroimaging confirmed presence molar tooth sign, otherwise healthy, history of racheoesophageal fistula (also seen healthy sister) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Johan den Dunnen Date created 2016-06-20 21:02:06 +02:00 (CEST) Date last edited N/A

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