| Term Name: | hyperekplexia 1 |
|---|---|
| Synonyms: | HKPX1 |
| Definition: | A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. |
| Ontology: | Human Disease [DOID:0060696] ( DOID:0060696 ) |