{"orpha":2512,"name":"Autosomal recessive primary microcephaly","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MCPH","Microcephalia vera","Microcephaly vera","True microcephaly"],"definition":"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2512/","orphanet_url":"https://www.orpha.net/en/disease/detail/2512","names":{"fr":{"name":"Microcéphalie primaire autosomique récessive","synonyms":["MCPH","Microcéphalie vraie"],"definition":"La microcéphalie primaire autosomique récessive (MCPH) est un trouble du développement neurologique d'origine génétique hétérogène rare caractérisé par un périmètre crânien réduit à la naissance sans anomalies notables de l'architecture cérébrale et avec une déficience intellectuelle variable."},"de":{"name":"Mikrozephalie, primäre, autosomal-rezessive","synonyms":["MCPH","Microcephalia vera","Mikrozephalie, echte"],"definition":"Die autosomal-rezessive primäre Mikrozephalie (MCPH) ist eine seltene, genetisch heterogene Krankheit der neurogenen Hirnentwicklung und gekennzeichnet durch bei Geburt verminderten Kopfumfang ohne schwere Anomalien der Hirn-Architektur und durch unterschiedlich schwer ausgeprägtes intellektuelles Defizit."},"es":{"name":"Microcefalia primaria autosómica recesiva","synonyms":["MCPH","Microcefalia vera","Microcefalia verdadera"],"definition":"La microcefalia primaria autosómica recesiva (MCPH) es un trastorno poco frecuente, genéticamente heterogéneo, del desarrollo neurogénico cerebral caracterizado por una reducción del perímetro cefálico (PC) al nacer, sin anomalías macroscópicas de la arquitectura cerebral y con grados variables de déficit cognitivo."},"it":{"name":"Microcefalia primitiva autosomica recessiva","synonyms":["MCPH","Microcefalia vera"],"definition":"La microcefalia primitiva autosomica recessiva (MCPH) è un difetto raro, geneticamente eterogeneo, dello sviluppo neurogenico cerebrale, caratterizzato dalla riduzione della circonferenza cranica alla nascita, senza anomalie macroscopiche dell'architettura cerebrale e con deficit cognitivo variabile."},"nl":{"name":"Autosomaal recessieve primaire microcefalie","synonyms":["Echte microcefalie","MCPH","Microcephalia vera"],"definition":"Een zeldzame, genetisch heterogene aandoening van neurogene hersenontwikkeling, gekarakteriseerd kleinere hoofdomtrek bij de geboorte zonder grote anomalieën van hersenarchitectuur en met variabele gradaties van intellectuele achterstand."},"pt":{"name":"Microcefalia isolada congénita"},"pl":{"name":"Autosomalna recesywna mikrocefalia pierwotna","synonyms":["Małogłowie prawdziwe","MCPH","Mikrocefalia prawdziwa"]},"cs":{"name":"Autozomálně recesivní primární mikrocefalie","synonyms":["MCPH","Mikrocefalia vera","Mikrocefalie vera","Pravá mikrocefalie"]},"uk":{"name":"Аутосомно-рецесивна первинна мікроцефалія","synonyms":["MCPH","Microcephalia vera","Microcephalia vera","Справжня мікроцефалія"],"definition":"Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."},"zh":{"name":"常染色体隐性遗传小头畸形","synonyms":["真性小脑髓症"]},"tr":{"name":"Otozomal resesif primer mikrosefali","synonyms":["MCPH","Mikrosefali vera","Gerçek mikrosefali","Mikrosefali vera"]}},"xrefs":[{"source":"OMIM","code":"251200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"603802","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604317","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604321","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604804","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608393","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608716","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612703","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614673","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614852","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615414","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616051","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616080","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616402","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616486","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617432","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617914","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617983","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617984","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617985","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618179","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618351","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618665","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619453","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620047","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620183","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016660","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711387","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12117","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved 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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"]},{"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"]},{"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"]},{"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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000","value":1.0,"area":"Pakistan","status":"Validated","source":"21668957[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11857108[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip 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