Global Variome shared LOVD

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Phenotype #0000144386 Individual ID 00184055 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details see paper; …; seizures; EEG temporal spikes; MRI hyperintense T2 signal in parieto-occipital region; severe axial hypotonia, neck dystonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), chorea (HP:0002072); congenital contractures (HP:0002803); macrocephaly (HP:0000256) Inheritance Isolated (sporadic) Age/Examination 12y (12 years) 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 2018-10-28 13:05:22 +01:00 (CET) Date last edited N/A

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