Global Variome shared LOVD

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Phenotype #0000231813 Individual ID 00305965 Associated disease ? Diagnosis/Initial dystonia Diagnosis/Definite NEDAMSS Phenotype details see paper; ..., leg-onset generalized dystonia, severe anarthria/aphonia, slow saccades, epilepsy including photic myoclonus; MRI brain mother mild supratentorial and cerebellar brain atrophy, neurophysiology showed axonal and demyelinating neuropathy peroneal and sural nerves Inheritance Familial, autosomal dominant 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 2020-07-06 13:42:28 +02:00 (CEST) Date last edited N/A

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