Global Variome shared LOVD

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Phenotype #0000000813 Individual ID 00001659 Associated disease KTZS Phenotype details initial development normal, uneventful pregnancy, birth, and newborn period, walking without support at age 2 years; normal at age 9y; MRI brain normal; feeds herself, fine motor problems; talks in simple sentences, friendly behaviour; primary and secondary teeth: yellowish discoloration, rough surface Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination 09y (9 years) Protein - Owner name Human Genetics Medical University Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-05-16 16:08:30 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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