OBO ID: DOID:0111446
Term Name: progressive myoclonus epilepsy 3 Search Ontology:
Synonyms:
  • CLN14 disease
  • EPM3
  • neuronal ceroid lipofuscinosis 14
  • PME type 3
  • Progressive myoclonic epilepsy due to KCTD7 deficiency
  • Progressive myoclonus epilepsy type 3
Definition: A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21. (2)
References:
Ontology: Human Disease   (DOID:0111446)
OTHER progressive myoclonus epilepsy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None