Global Variome shared LOVD

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Phenotype #0000319165 Individual ID 00428260 Associated disease JBTS3 Phenotype details Global developmental delay, Intellectual disability, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Protruding tongue, Neoplasm of the skin, Hypotonia, Strabismus, Absent speech Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-12-28 15:02:10 +01:00 (CET) Date last edited 2023-01-05 16:43:27 +01:00 (CET)

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