{"orpha":699751,"name":"Infantile CLN2 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile neuronal ceroid lipofuscinosis type 2"],"definition":null,"note":"This disease is described under CLN2 disease","url":"https://raremap.alftech.space/d/ORPHA-699751/","orphanet_url":"https://www.orpha.net/en/disease/detail/699751","names":{"fr":{"name":"Maladie CLN2 infantile","synonyms":["Céroïde lipofuscinose neuronale infantile type 2"]},"de":{"name":"CLN2-Krankheit, infantile","synonyms":["Infantile neuronale Ceroid-Lipofuszinose Typ 2"]},"es":{"name":"Enfermedad CLN2 infantil","synonyms":["Lipofuscinosis ceroidea neuronal infantil tipo 2"]},"it":{"name":"Malattia CLN2 infantile","synonyms":["Ceroidolipofuscinosi neuronale infantile tipo 2"]},"nl":{"name":"Infantiele CLN2-ziekte","synonyms":["Infantiele neuronale ceroïdlipofuscinose type 2"]},"pt":{"name":"Infantile CLN2 disease"},"pl":{"name":"Infantile CLN2 disease","synonyms":["Infantile neuronal ceroid lipofuscinosis type 2"]},"cs":{"name":"Infantile CLN2 disease","synonyms":["Infantile neuronal ceroid lipofuscinosis type 2"]}},"xrefs":[{"source":"OMIM","code":"204500","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228349,"name":"CLN2 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"TPP1","name":"tripeptidyl peptidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]","hgnc":"2073","ensembl":"ENSG00000166340","omim":"607998","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}