{"orpha":2514,"name":"Autosomal dominant primary microcephaly","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2514/","orphanet_url":"https://www.orpha.net/en/disease/detail/2514","names":{"fr":{"name":"Microcéphalie primaire autosomique dominante","definition":"Anomalie rare non syndromique du développement embryonnaire, d'origine génétique, caractérisée par un périmètre crânien occipitofrontal congénital non progressif qui se situe 2 déviations standards minimum en dessous de la moyenne pour l'âge, le genre et l'origine ethnique, associé à une architecture cérébrale normale, en l'absence d'autres anomalies. Une déficience intellectuelle limite à modérée, ainsi qu'un retard psychomoteur précoce peuvent ou non être associés."},"de":{"name":"Mikrozephalie, primäre, autosomal-dominante"},"es":{"name":"Microcefalia primaria autosómica dominante","definition":"Es un síndrome malformativo por defecto del desarrollo embrionario no sindrómico, genético y poco frecuente, caracterizado por una circunferencia craneal occipitofrontal congénita, no progresiva, por debajo de 2 o más desviaciones estándar, para la media de edad, sexo y etnia, y que está asociado con una arquitectura cerebral normal y sin otras complicaciones. Pueden (o no) estar asociados discapacidad intelectual de límite a moderada y retraso psicomotor temprano."},"it":{"name":"Microcefalia primitiva autosomica dominante","definition":"La microcefalia primitiva autosomica dominante è una malattia malformativa genetica rara non sindromica, causata da un difetto di sviluppo dell'embrione, caratterizzata da una circonferenza cranica occipito-frontale congenita non progressiva inferiore di 2 o più deviazioni standard, rispetto alla media per età, sesso ed etnia. L'architettura cerebrale è normale e non sono presenti altre anomalie. I pazienti possono mostrare disabilità intellettiva borderline-moderata e ritardo psicomotorio ad esordio precoce."},"nl":{"name":"Autosomaal dominante primaire microcefalie","definition":"Een zeldzame, genetische, niet-syndromale malformatie door een ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door een congenitale, niet-progressieve, occipitofrontale hoofdomtrek die 2 of meer standaarddeviaties onder het gemiddelde ligt voor leeftijd, geslacht en etniciteit, geassocieerd met een normale architectuur van de hersenen en niet gecompliceerd door andere afwijkingen. Marginale tot matige intellectuele achterstand, alsook vroege psychomotorische achterstand, kunnen al dan niet geassocieerd zijn."},"pt":{"name":"Microcefalia primária autossómica dominante"},"pl":{"name":"Autosomalnie dominujące małogłowie","definition":"*Autosomalnie dominujące pierwotne małogłowie jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się wrodzonym, niepostępującym małogłowiem z obwodem głowy w wymiarze potyliczno-czołowym o 2 lub więcej odchyleń standardowych poniżej średniej dla wieku, płci i pochodzenia etnicznego, związanym z prawidłową architekturą mózgu i nie jest powikłana innymi nieprawidłowościami. Może towarzyszyć (lub nie) niepełnosprawność intelektualna od pogranicza normy do stopnia umiarkowanego, a także opóźnienie rozwoju psychoruchowego o wczesnym początku."},"cs":{"name":"Autozomálně dominantní mikrocefalie"},"uk":{"name":"Аутосомно-домінантна первинна мікроцефалія","definition":"A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated."},"zh":{"name":"常染色体显性遗传原发性小头畸形"},"tr":{"name":"Otozomal dominant primer mikrosefali"}},"xrefs":[{"source":"OMIM","code":"156580","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616311","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619179","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619180","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":"index","validated":true,"icd11_uri":"774437947"},{"source":"MONDO","code":"0007988","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755316","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":199642,"name":"Isolated congenital microcephaly","classifications":[147,156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"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"]},{"symbol":"LMNB1","name":"lamin B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32910914[PMID]","hgnc":"6637","ensembl":"ENSG00000113368","omim":"150340","loci":["5q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001137","label":"Alternating esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null}]}}