Global Variome shared LOVD

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

Phenotype #0000000858 Individual ID 00001704 Associated disease HSD10MD Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Onset 02y06m Phenotype/Onset - Phenotype details ascertainment clinical presentation; developmental regression, Hyperkinetic involuntary movement disorder, EEG showed diffuse background slowing and multifocal spike or polyspike activity Enzyme/Activity - Protein - Age/Diagnosis - Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-02-14 15:41:51 +01:00 (CET) Date last edited 2012-02-14 16:01:15 +01:00 (CET)

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