Global Variome shared LOVD

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

Phenotype #0000128878 Individual ID 00163742 Associated disease ? Diagnosis/Initial episodic weakness, cerebellar ataxia, areflexia, deafness, optic atrophy Diagnosis/Definite - Phenotype details febrile triggered episodic attacks of weakness and cerebellar ataxia with permanent areflexia and progressive deafness and optic atrophy Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 34y Age/Onset 4y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Gali Heimer Database submission license No license selected Created by Gali Heimer Date created 2014-04-13 16:25:53 +02:00 (CEST) Date last edited 2014-04-15 12:00:05 +02:00 (CEST)

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