{"orpha":261144,"name":"FOXG1 syndrome due to 14q12 microdeletion","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(14)(q12)","Monosomy 14q12"],"definition":"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261144/","orphanet_url":"https://www.orpha.net/en/disease/detail/261144","names":{"fr":{"name":"Syndrome FOXG1 dû à une microdélétion 14q12","synonyms":["Del(14)(q12)","Monosomie 14q12","Syndrome FOXG1 plus"],"definition":"Le syndrome de microdélétion 14q12, récemment décrit, se caractérise par un déficit intellectuel sévère survenant à l'âge de 3-6 mois après une période néonatale normale."},"de":{"name":"FOXG1-Syndrom durch Mikrodeletion 14q12","synonyms":["Del(14)(q12)","Monosomie 14q12"],"definition":"Das kürzlich beschriebene 14q12-Mikrodeletion-Syndrom ist gekennzeichnet durch schweres intellektuelles Defizit. Einer normalen Neugeborenenzeit folgt im Alter von 3-6 Monaten eine Periode der Regression."},"es":{"name":"Síndrome FOXG1 por microdeleción 14q12","synonyms":["Del(14)(q12)","Monosomía 14q12"],"definition":"El síndrome de microdeleción 14q12 es un síndrome recientemente descrito caracterizado por déficit intelectual grave, con un periodo neonatal normal, seguido por una fase de regresión a los 3-6 meses de edad."},"it":{"name":"Sindrome FOXG1 da microdelezione 14q12","synonyms":["Del(14)(q12)","Monosomia 14q12"],"definition":"La sindrome da microdelezione 14q12, descritta di recente, è una malattia caratterizzata da un periodo neonatale normale, al quale segue una fase di regressione dall'età di 3-6 mesi e un deficit cognitivo grave."},"nl":{"name":"FOXG1-syndroom door 14q12-microdeletie","synonyms":["Del(14)(q12)","Monosomie 14q12"],"definition":"Een syndroom, gekenmerkt door ernstige intellectuele achterstand, met een normale neonatale periode gevolgd door een fase van regressie op een leeftijd tussen 3 en 6 maanden."},"pt":{"name":"Síndrome FOXG1 por microdeleção 14q12","synonyms":["Del(14)(q12)","Monossomia 14q12"],"definition":"A síndrome da microdeleção 14q12 é uma síndrome recentemente descrita, caracterizada por perturbação do desenvolvimento intelectual grave, com um período neonatal normal, seguido de uma fase de regressão aos 3-6 meses de idade."},"pl":{"name":"Zespół mikrodelecji 14q12","synonyms":["Del(14)(q12)","Monosomia 14q12"]},"cs":{"name":"Syndrom mikrodelece 14q12","synonyms":["Del(14)(q12)","Monozomie 14q12"]},"uk":{"name":"Синдром FOXG1 внаслідок мікроделеції 14q12","synonyms":["Del(14)(q12)","Моносомія 14q12"],"definition":"14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months."},"zh":{"name":"染色体14q12微缺失综合征","synonyms":["14q12单体"],"definition":"14q12微缺失综合征是最近报道的一种综合征，其特征是严重的智力缺陷，新生儿期正常，3-6月龄时有一个退化期。"},"tr":{"name":"14q12 mikrodelesyon sendromu","synonyms":["Del (14) (q12)","Monozomi 14q12"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1675471500"},{"source":"MONDO","code":"0016833","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305240","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":561854,"name":"FOXG1 syndrome","classifications":[156,181]},{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"FOXG1","name":"forkhead box G1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23895774[PMID]","hgnc":"3811","ensembl":"ENSG00000176165","omim":"164874","loci":["14q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19303466[PMID]_18627055[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","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:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null}]}}