Global Variome shared LOVD

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Phenotype #0000000852 Individual ID 00001698 Associated disease MRXS10 Inheritance Familial Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details ascertainment clinical presentation; mild mental retardation, choreoathetosis, abnormal behavior Enzyme/Activity almost normal MHBD activity, amounting to 85% of the level in controls 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 2010-04-27 09:16:17 +02:00 (CEST) Date last edited N/A

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