Global Variome shared LOVD

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Phenotype #0000036623 Individual ID 00049850 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; hypotonia, spasticity, developmental delay, vision defect, sensorineural hearing loss, microcephaly, MRI progressive diffuse atrophy, seizures, EEG abnormal, gastrointestinal issues , ... Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-13 12:03:23 +02:00 (CEST) Date last edited N/A

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