Global Variome shared LOVD

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Phenotype #0000000811 Individual ID 00001657 Associated disease KTZS Phenotype details initial development normal, pregnancy: gestational diabetes, birth: cesarean section (breech presentation), newborn period uneventful, sit and walk with support at age 18 months and 4.5 years; 12y mild microcephaly; MRI-brain temporal delayed myelination; no expressive language, loss of visual fixation after onset of seizures; 13m-eruption of primary teeth, brownish discoloration from the beginning, small teeth, Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination 12y (12 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 15:57:38 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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