early infantile epileptic encephalopathy 51 (Q61913446)
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early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has material basis in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | early infantile epileptic encephalopathy 51 |
early infantile epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life that has material basis in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11 |
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1 reference