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 InternationalCreative Commons License
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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