| Metadata | |
|---|---|
| ID | DOID:0060697 |
| Name | hyperekplexia 2 |
| Definition | A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. https://www.ncbi.nlm.nih.gov/pubmed/11929858, https://www.ncbi.nlm.nih.gov/pubmed/21391991 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HKPX2 [EXACT] |
| Parent Relationships |
is_a hyperekplexia |