| Metadata | |
|---|---|
| ID | DOID:0111444 |
| Name | progressive myoclonus epilepsy 4 |
| Definition | A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. https://www.ncbi.nlm.nih.gov/pubmed/15364701, https://www.ncbi.nlm.nih.gov/pubmed/19847901 |
| Xrefs |
SNOMEDCT_US_2023_03_01:764453009 |
| Subsets |
DO_rare_slim |
| Synonyms |
action myoclonus-renal failure syndrome [EXACT] AMRF [EXACT] EPM4 [EXACT] Myoclonus-nephropathy syndrome [EXACT] |
| Parent Relationships |