OBO ID: DOID:0111444
Term Name: progressive myoclonus epilepsy 4 Search Ontology:
Synonyms:
  • action myoclonus-renal failure syndrome
  • AMRF
  • EPM4
  • Myoclonus-nephropathy syndrome
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 SCARB2 on chromosome 4q21.1. (2)
References:
Ontology: Human Disease   (DOID:0111444)
OTHER progressive myoclonus epilepsy 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure 254900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None