Global Variome shared LOVD

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Phenotype #0000000836 Individual ID 00001682 Associated disease KTZS Phenotype details uneventful pregnancy, birth, and newborn period, delayed psychomotor development from the beginning, slow development after seizure onset, severe psychomotor disability; 4.5y microcephaly; broad thumbs and toes; MRI-brain enlargement of lateral ventricles; no active language; yellow teeth Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination 4y6m (4 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 2012-10-23 16:14:50 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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