A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/7637805 ]

Synonyms: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:228329
  • ICD10CM:E75.4
  • MIM:256730
  • GARD:1219
Subsets

DO_rare_slim

acronym
CLN1

has obo namespace

disease_ontology

id

DOID:0110721