infantile or early childhood epileptic encephalopathy 2 (Q61913488)
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electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has material basis in heterozygous mutation in the GABRB2 gene on chromosome 5q34
- IECEE2
Language | Label | Description | Also known as |
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English | infantile or early childhood epileptic encephalopathy 2 |
electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has material basis in heterozygous mutation in the GABRB2 gene on chromosome 5q34 |
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