{"orpha":699708,"name":"CLN14 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NCL14","Neuronal ceroid lipofuscinosis type 14"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by infantile-onset (9-11&nbsp;months) neurocognitive regression, microcephaly with brain atrophy, myoclonus, vision loss and premature death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-699708/","orphanet_url":"https://www.orpha.net/en/disease/detail/699708","names":{"fr":{"name":"Maladie CLN14","synonyms":["Céroïde lipofuscinose neuronale de type 14","NCL14"],"definition":"Céroïde-lipofuscinose neuronale rare caractérisée par une régression neurocognitive d'apparition infantile (entre l'âge de 9 et 11&nbsp;mois), une microcéphalie avec atrophie cérébrale, une myoclonie, une perte de la vision et un décès prématuré."},"de":{"name":"CLN14-Krankheit","synonyms":["Ceroid-Lipofuszinose, neuronale, Typ 14","NCL14"],"definition":"Eine seltene neuronale Ceroid-Lipofuszinose, die durch eine im Säuglingsalter (9-11 Monate) einsetzende neurokognitive Regression, Mikrozephalie mit Hirnatrophie, Myoklonus, Sehverlust und vorzeitigen Tod gekennzeichnet ist."},"es":{"name":"Enfermedad CLN14","synonyms":["Lipofuscinosis ceroidea neuronal tipo 14","NCL14"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente caracterizada por regresión neurocognitiva de inicio en la lactancia (9-11 meses), microcefalia con atrofia cerebral, mioclonías, pérdida de visión y muerte prematura."},"it":{"name":"Malattia CLN14","synonyms":["NCL14","Ceroidolipofuscinosi neuronale tipo 14"]},"nl":{"name":"CLN14-ziekte","synonyms":["NCL14","Neuronale ceroïdlipofuscinose type 14"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door infantiel (9-11 maanden) optredende neurocognitieve regressie, microcefalie met hersenatrofie, myoclonus, verlies van gezichtsvermogen, en vroegtijdig overlijden."},"pt":{"name":"CLN14 disease"},"pl":{"name":"CLN14 disease","synonyms":["NCL14","Neuronal ceroid lipofuscinosis type 14"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, ujawniająca się w w okresie niemowlęcym (9–11 miesięcy) i charakteryzująca regresem funkcji poznawczych, małogłowiem z atrofią mózgu, mioklonią, utratą wzroku oraz przedwczesną śmiercią."},"cs":{"name":"CLN14 disease","synonyms":["NCL14","Neuronal ceroid lipofuscinosis type 14"]}},"xrefs":[{"source":"OMIM","code":"611726","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":216,"name":"Neuronal ceroid lipofuscinosis","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"KCTD7","name":"potassium channel tetramerization domain containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39350080[PMID]","hgnc":"21957","ensembl":"ENSG00000243335","omim":"611725","loci":["7q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}