Search Ontology:
Human Disease

progressive myoclonus epilepsy 3

Term ID
DOID:0111446
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 the KCTD7 gene on chromosome 7q11.21. (2)
References
Ontology
Human Disease   ( DOID:0111446 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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