Progressive epilepsy-intellectual disability syndrome, Finnish type

Go to external page http://www.orpha.net/ORDO/Orphanet_1947


Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.

Synonyms:

Northern epilepsy

Neuronal ceroid lipofuscinosis, Northern epilepsy variant

CLN8 disease, Northern epilepsy variant

NCL, Northern epilepsy variant

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
hasDbXref
  • OMIM:610003
  • ICD-10:E75.4
  • UMLS:C1864923
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:1947
part of
  • http://www.orpha.net/ORDO/Orphanet_611327
  • http://www.orpha.net/ORDO/Orphanet_102283
  • http://www.orpha.net/ORDO/Orphanet_166472
  • http://www.orpha.net/ORDO/Orphanet_98261
  • http://www.orpha.net/ORDO/Orphanet_216
present in
  • http://www.orpha.net/ORDO/Orphanet_409991