{"orpha":369891,"name":"Developmental delay-facial dysmorphism syndrome due to MED13L deficiency","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MED13L-related intellectual disability syndrome"],"definition":"A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369891/","orphanet_url":"https://www.orpha.net/en/disease/detail/369891","names":{"fr":{"name":"Syndrome de retard de développement-dysmorphie faciale par déficit en MED13L","synonyms":["Syndrome de déficience intellectuelle associé à MED13L"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard de développement, une déficience intellectuelle légère à sévère, une dysmorphie faciale caractéristique (pointe nasale bulbeuse et macroglossie, macrostomie ou bouche d'aspect entre-ouvert) et de nombreuses autres caractéristiques cliniques inconstantes et non spécifiques."},"de":{"name":"Entwicklungsverzögerung-Gesichtsdysmorphien-Syndrom durch MED13L-Mangel","synonyms":["Intelligenzminderung-Syndrom, MED13L-assoziiertes"],"definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die durch Entwicklungsverzögerung, leichte bis schwere intellektuelle Beeinträchtigung, typische Gesichtsmerkmale (knollige Nasenspitze, Makroglossie, Makrostomie oder offener Mund) und ein breites Spektrum anderer, unspezifischer, variabler klinischer Merkmale gekennzeichnet ist."},"es":{"name":"Síndrome de retraso del desarrollo-dismorfia facial, por defecto en el gen MED13L","synonyms":["Síndrome de discapacidad intelectual asociado al gen MED13L"],"definition":"Es un síndrome dismórfico con múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por retraso global del desarrollo, discapacidad intelectual de leve a grave, facies caracteristica (nariz bulbosa y macroglosia, macrostomia, o apariencia de boca abierta), así como un espectro amplio de otras características clinicas inespecíficas variables."},"it":{"name":"Sindrome ritardo dello sviluppo-dismorfismi facciali da deficit di MED13L","synonyms":["Sindrome da disabilità intellettiva correlata a MED13L"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo dello sviluppo, disabilità intellettiva lieve-grave, dismorfismi facciali (punta del naso globosa, macroglossia, macrostomia o bocca aperta) e un'ampia gamma di altri segni clinici aspecifici."},"nl":{"name":"Ontwikkelingsachterstand - faciale dysmorfie-syndroom door MED13L-deficiëntie","synonyms":["MED13L-gerelateerd intellectuele achterstand-syndroom"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekarakteriseerd door ontwikkelingsachterstand, milde tot ernstige intellectuele achterstand, gelaatskenmerken (knolvormige neuspunt, en macroglossie, macrostomie, of open mond) en een breed spectrum van andere, aspecifieke variabele klinische kenmerken."},"pt":{"name":"Síndrome de perturbação do desenvolvimento-dismorfia facial devido a deficiência MED13L","synonyms":["Síndrome de perturbação de desenvolvimento MED13L-relacionada"]},"pl":{"name":"Zespół opóźnionego rozwoju i dysmorfii twarzy spowodowany niedoborem MED13L","synonyms":["MED13L-related intellectual disability syndrome"]},"cs":{"name":"Syndrom zahrnující srdeční anomálie, opoždění vývoje a faciální dysmorfismus","synonyms":["MED13L-related intellectual disability syndrome"]},"uk":{"name":"Синдром затримки розвитку - дисморфізму обличчя, зумовлений дефіцитом MED13L","synonyms":["Синдром інтелектуальної недостатності, повязаний з MED13L"],"definition":"A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features."},"zh":{"name":"MED13L基因缺陷所致发育迟缓-面部畸形综合征","synonyms":["MED13L-related intellectual disability syndrome"],"definition":"本病是一种罕见的遗传性多发性先天性异常/变形综合征，其特征是不同程度的智力障碍、全面发育迟缓(尤其是严重的言语和语言障碍)、肌肉张力减退和面部畸形(即宽额、双颞叶狭窄、睑裂上斜、低位耳、扁平鼻桥、球状鼻和程度不一的巨舌症)。高度可变的其他特征包括心脏缺陷(包括持续性卵圆孔、室间隔缺损、法洛四联症)、协调问题、癫痫发作、生长参数异常(包括小头畸形、低出生和出生后体重)以及脑形态异常(如脑室扩大和髓鞘形成缺陷)。"},"tr":{"name":"MED13L eksikliğine bağlı gelişme geriliği-fasiyal dismorfizm sendromu","synonyms":["MED13L-related intellectual disability syndrome"]}},"xrefs":[{"source":"OMIM","code":"616789","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014773","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"MED13L","name":"mediator complex subunit 13L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23403903[PMID]_25712080[PMID]","hgnc":"22962","ensembl":"ENSG00000123066","omim":"608771","loci":["12q24.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"28645799[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28645799[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-25","source":"25758992[PMID]_29959045[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005612","label":"Arthrogryposis-like hand anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002236","label":"Frontal upsweep of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007700","label":"Ocular anterior segment dysgenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100025","label":"Overfriendliness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional 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