Global Variome shared LOVD

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Phenotype #0000000818 Individual ID 00001664 Associated disease KTZS Phenotype details uneventful pregnancy and birth; developmental delay since birth: newborn period: muscular hypotonia, poor sucking, severe intellectual impairment; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination 16y6m (16 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 09:48:48 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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