{"orpha":700484,"name":"Late infantile CLN8 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Late infantile neuronal ceroid lipofuscinosis type 8"],"definition":null,"note":"This disease is described under CLN8 disease","url":"https://raremap.alftech.space/d/ORPHA-700484/","orphanet_url":"https://www.orpha.net/en/disease/detail/700484","names":{"fr":{"name":"Maladie CLN8 infantile tardive","synonyms":["Céroïde lipofuscinose neuronale infantile tardive type 8"]},"de":{"name":"CLN8-Krankheit, spät-infantile","synonyms":["Spät-infantile neuronale Ceroid-Lipofuszinose Typ 8"]},"es":{"name":"Enfermedad CLN8 infantil tardía","synonyms":["Lipofuscinosis ceroidea neuronal infantil tardía tipo 8"]},"it":{"name":"Malattia CLN8 infantile tardiva","synonyms":["Ceroidolipofuscinosi neuronale infantile tardiva tipo 8"]},"nl":{"name":"Laat-infantiele CLN8-ziekte","synonyms":["Laat-infantiele neuronale ceroïdlipofuscinose type 8"]},"pt":{"name":"Late infantile CLN8 disease"},"pl":{"name":"Late infantile CLN8 disease","synonyms":["Late infantile neuronal ceroid lipofuscinosis type 8"]},"cs":{"name":"Late infantile CLN8 disease","synonyms":["Late infantile neuronal ceroid lipofuscinosis type 8"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228354,"name":"CLN8 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"CLN8","name":"CLN8 transmembrane ER and ERGIC protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2079","ensembl":"ENSG00000182372","omim":"607837","loci":["8p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}