A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/17564970 ]

Synonyms: CLN7

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:228366
  • MIM:610951
  • GARD:1220
  • ICD10CM:E75.4
Subsets

DO_rare_slim

acronym
CLN7

has obo namespace

disease_ontology

id

DOID:0110722