Global Variome shared LOVD

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Phenotype #0000000819 Individual ID 00001665 Associated disease KTZS Phenotype details initial development normal until seizure onset, uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination 13y6m (13 years, 6 months) Protein - 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 2012-07-04 09:56:20 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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