hyperekplexia 4 (Q66299874)
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hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has material basis in homozygous mutation in the ATAD1 gene on chromosome 10q23
- HKPX4
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | hyperekplexia 4 |
hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has material basis in homozygous mutation in the ATAD1 gene on chromosome 10q23 |
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Statements
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Identifiers
1 reference