Global Variome shared LOVD

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Phenotype #0000342142 Individual ID 00453480 Associated disease - Phenotype details The patient presents with developmental delay and seizures. Brain MRI shows dysgenesis of the corpus callosum with absent vermis, and an abnormal EEG indicates epileptic discharges. Karyotyping revealed a de novo reciprocal translocation between chromosome 2p and 6q. Diagnosis/Initial mental retardation Inheritance Isolated (sporadic) Diagnosis/Definite mental retardation Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Xiaomei Luo Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Xiaomei Luo Date created 2024-09-05 12:16:20 +02:00 (CEST) Date last edited 2024-09-05 19:35:05 +02:00 (CEST)

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