Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000135708 Individual ID 00170846 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 28y-transient neck dystonia; 30y-slurred speech, vertigo; 36y-required assistance to walk; 37y severe truncal ataxia, mild limb ataxia, eye movements mildly limited on both lateral sides, lateral gaze nystagmus, speech severely slurred, ... Inheritance Isolated (sporadic) Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset 27y Phenotype/Onset unsteadiness of gait, clumsiness of action 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 2018-07-25 13:35:40 +02:00 (CEST) Date last edited N/A

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