{"orpha":199642,"name":"Isolated congenital microcephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199642/","orphanet_url":"https://www.orpha.net/en/disease/detail/199642","names":{"fr":{"name":"Microcéphalie congénitale isolée","definition":"Maladie neurologique rare caractérisée par un périmètre crânien réduit à la naissance, en l'absence d'anomalies grossières des structures cérébrales. Le périmètre crânien réduit peut être la seule manifestation ou être associé à des convulsions, un retard de développement, une déficience intellectuelle, des troubles de l'équilibre, une perte auditive ou une déficience visuelle."},"de":{"name":"Mikrozephalie, isolierte kongenitale","definition":"Eine seltene neurologische Störung, die durch einen verminderten Kopfumfang bei der Geburt ohne schwerwiegende Anomalien der Gehirnstruktur gekennzeichnet ist. Sie kann isoliert auftreten oder mit Krampfanfällen, Entwicklungsverzögerung, Intelligenzminderung, Gleichgewichtsstörungen, Hörverlust oder Sehstörungen einhergehen."},"es":{"name":"Microcefalia congénita aislada","definition":"Es un trastorno neurológico poco frecuente caracterizado por un perímetro cefálico reducido al nacimiento en ausencia de anomalías graves de la estructura cerebral. Puede ser un hallazgo aislado o bien estar asociado a crisis epilépticas, retraso psicomotor, discapacidad intelectual, alteraciones del equilibrio, pérdida auditiva o problemas de visión."},"it":{"name":"Microcefalia congenita isolata","definition":"Si tratta di una malattia neurologica rara, caratterizzata da una ridotta circonferenza cranica alla nascita, in assenza di evidenti anomalie della struttura del cervello. Può essere isolata o associarsi a crisi epilettiche, ritardo dello sviluppo, disabilità intellettiva, anomalie dell'equilibrio, sordità o problemi visivi."},"nl":{"name":"Geïsoleerde congenitale microcefalie","definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door een kleinere hoofdomtrek bij de geboorte zonder ernstige anomalieën van de structuur van de hersenen. Het kan geïsoleerd voorkomen, of geassocieerd zijn met insulten, ontwikkelingsachterstand, intellectuele achterstand, evenwichtsstoornissen, gehoorverlies of gezichtsstoornissen."},"pt":{"name":"Microencefalia"},"pl":{"name":"Izolowana wrodzona mikrocefalia"},"cs":{"name":"Izolovaná vrozená mikrocefalie"},"uk":{"name":"Ізольована вроджена мікроцефалія","definition":"A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems."},"zh":{"name":"孤立性先天性小头畸形","definition":"孤立性先天性小头畸形是一种罕见的神经系统疾病，其主要临床表现为出生时头围缩小，大脑结构没有明显异常。该病可能是一个孤立性疾病，也可能与惊厥、发育迟缓、智力障碍、平衡障碍、听力丧失或视力问题有关。"},"tr":{"name":"İzole doğumsal mikrosefali"}},"xrefs":[{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016056","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025958","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3603","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027534","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269553,"name":"Genetic cerebral malformation","classifications":[156]},{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]}],"children":[{"orpha":2514,"name":"Autosomal dominant primary microcephaly","type":"Etiological subtype"},{"orpha":2512,"name":"Autosomal recessive primary microcephaly","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DPP6","name":"dipeptidyl peptidase like 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23832105[PMID]","hgnc":"3010","ensembl":"ENSG00000130226","omim":"126141","loci":["7q36.2"],"via":{"orpha":2514,"name":"Autosomal dominant primary microcephaly"}},{"symbol":"MFSD2A","name":"MFSD2 lysolipid transporter A, lysophospholipid","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) 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2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"18672","ensembl":"ENSG00000136861","omim":"608201","loci":["9q33.2"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"CDK6","name":"cyclin dependent kinase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23918663[PMID]","hgnc":"1777","ensembl":"ENSG00000105810","omim":"603368","loci":["7q21.2"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"CENPE","name":"centromere protein E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24748105[PMID]","hgnc":"1856","ensembl":"ENSG00000138778","omim":"117143","loci":["4q24"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"CEP135","name":"centrosomal protein 135","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"29086","ensembl":"ENSG00000174799","omim":"611423","loci":["4q12"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"CEP152","name":"centrosomal protein 152","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"29298","ensembl":"ENSG00000103995","omim":"613529","loci":["15q21.1"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"CIT","name":"citron rho-interacting serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27453578[PMID]","hgnc":"1985","ensembl":"ENSG00000122966","omim":"605629","loci":["12q24.23"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"COPB2","name":"coat protein complex I subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29036432[PMID]","hgnc":"2232","ensembl":"ENSG00000184432","omim":"606990","loci":["3q23"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"CPAP","name":"centrosome assembly and centriole elongation protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17272","ensembl":"ENSG00000151849","omim":"609279","loci":["13q12.12-q12.13"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"KIF14","name":"kinesin family member 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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homolog 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3182","ensembl":"ENSG00000111752","omim":"602978","loci":["12p13.31"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"PYCR2","name":"pyrroline-5-carboxylate reductase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27860360[PMID]","hgnc":"30262","ensembl":"ENSG00000143811","omim":"616406","loci":["1q42.12"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"SARS1","name":"seryl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35790048[PMID]","hgnc":"10537","ensembl":"ENSG00000031698","omim":"607529","loci":["1p13.3"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"SASS6","name":"SAS-6 centriolar assembly protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24951542[PMID]","hgnc":"25403","ensembl":"ENSG00000156876","omim":"609321","loci":["1p21.2"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"STIL","name":"STIL centriolar assembly protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10879","ensembl":"ENSG00000123473","omim":"181590","loci":["1p33"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"TAF13","name":"TATA-box binding protein associated factor 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35790048[PMID]","hgnc":"12729","ensembl":"ENSG00000140105","omim":"191050","loci":["14q32.2"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}},{"symbol":"WDR62","name":"WD repeat domain 62","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"24502","ensembl":"ENSG00000075702","omim":"613583","loci":["19q13.12"],"via":{"orpha":2512,"name":"Autosomal recessive primary microcephaly"}}],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}